Mutations dystrophin. Medical search. Frequent questions

But now, working at Murdoch University in Western Australia, Sue Fletcher and Steve Wilton have developed a genetic therapy that can "cover up" the damaged part of the gene so the muscle cells can still read the rest of the message and produce a working form of dystrophin. (thenakedscientists.com)
Elevidys delivers a gene that codes for a shortened form of dystrophin to muscle cells to improve strength and function. (pharmavoice.com)
ELEVIDYS addresses the core genetic cause of Duchenne, mutations in the dystrophin gene that result in a lack of dystrophin protein, by delivering to muscle cells an ELEVIDYS micro-dystrophin gene that codes for a shorter form of dystrophin. (delveinsight.com)
SRP-9001, a single-dose recombinant gene therapy administered as an intravenous infusion, was designed to deliver a trimmed down form of dystrophin to compensate for the deficit. (medscape.com)

We found 27 patients with deletions of one or more exons, 2 patients with one exon duplication, 2 patients with nucleotide deletion, and 4 patients with nonsense mutations (including 1 patient with two nonsense mutations in the same exon). (afpm.org.my)
With nonsense mutations, what normally happens during translation is that the ribosome halts when it reaches the garbled code. (medpagetoday.com)
PTC and its development partner, Genzyme, are also testing the drug in other genetic disorders caused by nonsense mutations, including cystic fibrosis and hemophilia A and B. (medpagetoday.com)
Exon skipping is capable of correcting frame-shift and nonsense mutations of Duchenne Muscular Dystrophy (DMD). (oregonstate.edu)
Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. (bvsalud.org)

By pharmacologically modulating the expression of the dystrophin-related protein utrophin, we have previously demonstrated in dystrophin-deficient mdx studies, daily SMT C1100 treatment significantly reduced muscle degeneration, leading to improved muscle function. (drugdiscoverynews.com)

In addition to weakness of the skeletal muscles, serious cardiac problems can occur in both diseases, which can be caused by a wide variety of mutations in the dystrophin gene. (mda.org)
Without dystrophin, muscles are susceptible to mechanical injury and undergo repeated cycles of necrosis and regeneration. (medscape.com)
DMD is an X-chromosome linked recessive disorder caused by a loss of function of the dystrophin gene of 2.3 million base pairs, which results in progressive weakness and atrophy of the skeletal and cardiac muscles. (nature.com)
It's caused by mutations in the gene that makes dystrophin, a protein that serves to rebuild and strengthen muscle fibers in skeletal and cardiac muscles. (singularityhub.com)
DMD, which primarily affects boys, starves the muscles of the crucial dystrophin protein that keeps them healthy, triggering a slow deterioration. (pharmavoice.com)
This mutation causes abnormalities in a protein called dystrophin in our muscles that makes them fragile and easily damaged. (edu.ph)
What dystrophin does is protects your muscles as it grows. (kmmsam.com)
Phase II clinical trials in UK and Netherlands have reported induction of dystrophin expression in muscles of DMD patients by systemic administrations of both phosphorodiamidate morpholino oligomers (PMO) and 2'O methyl phosphorothioate. (oregonstate.edu)
There's no cure for DMD, but there are treatments that can help with the symptoms, including gene-based therapies that help the muscles make more dystrophin. (medlineplus.gov)
NIH-supported researchers have been studying ways to deliver dystrophin genes to affected muscles with fewer side effects. (medlineplus.gov)

An absence of the muscle protein dystrophin is the underlying cause of Duchenne muscular dystrophy (DMD) , while a partial lack of dystrophin is the cause of Becker muscular dystrophy (BMD) . (mda.org)

A) Normal dystrophin staining. (medscape.com)
Other types of mutations, such as deletions, account for the majority of cases, although the end result in all cases is lack of normal dystrophin protein. (medpagetoday.com)

The DMD gene provides instructions for making a protein called dystrophin . (medlineplus.gov)
The best known is that described by Duchenne, which affects boys and is evident from about five years of age, and which results from mutations in the gene encoding a protein called dystrophin. (nature.com)
In this case, it's a protein called "dystrophin" that keeps muscle membranes stable and strong. (medlineplus.gov)

We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients. (afpm.org.my)
About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification. (elsevierpure.com)
A related condition called X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. (medlineplus.gov)
Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. (medlineplus.gov)
Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy, while mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy. (medlineplus.gov)
B) Intermediate dystrophin staining in a patient with Becker muscular dystrophy. (medscape.com)
C) Absent dystrophin staining in a patient with Duchenne muscular dystrophy. (medscape.com)
Such mutations account for about 13% of all cases of Duchenne/Becker muscular dystrophy, Wong said. (medpagetoday.com)
Exondys 51 is specifically indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. (centerwatch.com)
Duchenne muscular dystrophy, caused by gene mutations, is an inheritable neuromuscular disorder that occurs in one out of 3,600 male births. (uh.edu)
Duchenne muscular dystrophy (DMD) is a muscle wasting disease caused by mutations in the DMD gene, which encodes dystrophin. (seattlechildrens.org)
Duchenne muscular dystrophy (DMD) is a devastating muscle disease caused by a mutation in DMD encoding dystrophin. (nih.gov)
Mutations in all sarcoglycans, in dysferlin, and in caveolin-3, as well as mutations that cause abnormal glycosylation of alpha-dystroglycan, can result in limb-girdle muscular dystrophy. (medscape.com)
Two of these for which gene mutations have been found are muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD). (nature.com)
Two and a half years ago, a study published in Science Advances detailed how the gene editing tool CRISPR/Cas-9 repaired genetic mutations related to Duchenne Muscular Dystrophy (DMD). (singularityhub.com)
Thus far, all of the mutations characterized in dogs with muscular dystrophy have been in the dystrophin gene. (cornell.edu)
The X chromosome-linked mutation resulted in mice ( mdx mice) with high serum levels of muscle enzymes and with histological lesions comparable to those seen in human muscular dystrophy. (hindawi.com)
In a second set of experiments, the researchers transplanted the muscle stem cells into mice genetically engineered with a mutation in the dystrophin gene, which results in Duchenne muscular dystrophy, a muscle wasting disorder in mice and humans. (hopkinsmedicine.org)
Among them, dystrophin strengthens the sarcolemma through protein-lipid interactions, and its absence due to gene mutations leads to the severe Duchenne muscular dystrophy. (cea.fr)
An absence of dystrophin in muscle has a massive impact throughout muscle development, and Duchene Muscular Dystrophy (DMD) is one of the consequences. (bham.ac.uk)
He also has advanced his own personal research focused on the mechanisms of muscular dystrophy associated with mutations in the transmembrane dystrophin-glycoprotein complex. (umich.edu)
Antisense oligonucleotide (AO)-mediated exon-skipping therapeutics shows great promise in correcting frame-disrupting mutations in the DMD gene for Duchenne muscular dystrophy. (oregonstate.edu)
Considered one of the most severe forms of muscular dystrophy, DMD causes progressive muscle wasting stemming from the root genetic cause of missing dystrophin in muscle cells. (medscape.com)
Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. (bvsalud.org)
Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity. (cdc.gov)
Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. (cdc.gov)
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. (cdc.gov)
Diagnosis of Mutations in the dystrophin gene can cause Duchenne these disorders is based on clinical presentation, muscular dystrophy or Becker muscular dystrophy. (who.int)

Presumably, in these cases, the deficiency is caused by minor structural lesions of the dystrophin gene. (elsevierpure.com)
Both point mutations are frameshift mutations in exons 12 and 48, respectively, and are closely followed by stop codons, thus explaining the functional deficiency of the dystrophin gene products in both patients. (elsevierpure.com)
These co-morbidities are due to the deficiency of multiple dystrophin isoforms in brain whose expression is differentially affected by the site of the DMD mutation. (europa.eu)
Dystrophin deficiency does not always produce muscle degeneration at all life stages, in all muscle phenotypes, or in all animal models [ 8 ]. (hindawi.com)
Duchenne muscular dystrophin deficiency and cause DMD. (who.int)

The investigators hope to recruit 800 participants who have a diagnosis of DMD or BMD with a documented mutation of the dystrophin gene, and who can cooperate with Doppler echocardiogram testing and skeletal-muscle testing. (mda.org)
Exondys 51 was granted accelerated approval based on an increase in dystrophin in skeletal muscle observed in some patients treated with Exondys 51. (centerwatch.com)
This mutation in the murine dystrophin gene caused an absence of dystrophin in skeletal muscle and this key defect validated the mdx mouse as a suitable model of the early onset of DMD human disease [ 5 , 6 ]. (hindawi.com)
In dystrophin-deficient skeletal muscle, for example, mechanical injury and proteolysis may be important factors but do not fully explain DMD pathogenesis. (hindawi.com)
This fast approval is predicated on an increase in skeletal muscle ELEVIDYS micro-dystrophin protein expression. (delveinsight.com)

The debilitating, childhood neuromuscular disease affects mostly males and is caused by mutations in the dystrophin gene resulting in the absence or defect of the dystrophin protein. (pharmacytimes.com)

But these drugs each target specific mutations, limiting efficacy . (pharmavoice.com)
Gene replacement or other genetic therapies linked to specific mutations to restore dystrophin production, membrane stabilization and/or upregulation of compensatory proteins, and reduction of the inflammatory cascade and/or enhancement of muscle regeneration are the main therapeutic strategies for DMD treatment . (delveinsight.com)

To screen for microheterogeneities in the dystrophin gene, we applied analysis by chemical mismatch cleavage to thirteen exons amplified in multiplex sets by the polymerase chain reaction. (elsevierpure.com)
Most DMD patients display deletion mutations of one or more of the 79 exons in the DMD gene, leading to out-of-frame mutations and loss of dystrophin protein in their muscle fibers. (nature.com)
They work by binding to exons - the sections of DNA that code for a protein - of the dystrophin gene that are responsible for mutated or absent dystrophin protein. (managedhealthcareexecutive.com)
By masking or silencing certain exons, they help produce truncated but partially functional dystrophin protein. (managedhealthcareexecutive.com)

Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. (medlineplus.gov)
Because Duchenne and Becker muscular dystrophies result from faulty or missing dystrophin, these conditions are classified as dystrophinopathies. (medlineplus.gov)
Duchenne and Becker muscular dystrophies are caused by mutations in the same gene encoding dystrophin. (medscape.com)
In Becker dystrophy, the mutations result in production of abnormal dystrophin or insufficient dystrophin. (msdmanuals.com)
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. (cdc.gov)

Studies examining the relationship between mutation type, X-inactivation status, and severity of clinical presentation found significant differences in clinical presentation between different types of mutations. (neurology.org)

The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene. (cdc.gov)

Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. (nih.gov)

Two MDA-supported studies focusing on the dystrophin-deficient heart and its treatment are now under way at the five centers that comprise the MDA DMD Clinical Research Network. (mda.org)
Exondys 51 was evaluated in three clinical studies in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. (centerwatch.com)
Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. (neurology.org)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
There is tremendous therapeutic potential for utrophin modulation in this devastating disease because there is currently no approved disease-modifying therapy applicable to all patients with DMD, and many other candidates in clinical development are restricted to a single mutation. (drugdiscoverynews.com)

Most of the dystrophin protein consists of a central domain made of 24 spectrin-like coiled-coil repeats (R). Using small angle neutron scattering (SANS) and the contrast variation technique, we specifically probed the structure of the three first consecutive repeats 1-3 (R1-3), a part of dystrophin known to physiologically interact with membrane lipids. (cea.fr)
To conclude, destabilisation of the plasma membrane owing to a dystrophin mutation causes cell signalling alterations which minidystrophin restoration can partly improve. (bham.ac.uk)
5%) of dystrophin, a protein in the muscle cell membrane. (msdmanuals.com)

Because of insufficient information on dystrophin protein levels before treatment with Exondys 51 in Study 1, it was not possible to estimate dystrophin production in response to Exondys 51 in Study 1. (centerwatch.com)
The mutation leads to insufficient, lack of, or dysfunction of dystrophin. (bvsalud.org)

It is caused by a mutation in the gene that encodes for dystrophin, a lubricating protein supports muscle fiber strength. (guidestar.org)

However, to date, only a single human DMD case has been described where a point mutation, producing a stop codon, accounts for the DMD phenotype. (elsevierpure.com)
The postnatal restoration of one dystrophin isoform using genetic therapies in the DMD mouse model improves the neurobehavioral phenotype. (europa.eu)

This project developed in partnership with advocacy groups, meets gender criteria and offers for the first time insight into how dystrophins' affect CNS function, and on the reversibility of the DMD CNS co-morbidities, providing essential information to the field of neurodevelopmental disorders, and for other syndromes arising from dystrophin associated proteins. (europa.eu)
Some muscular dystrophies are caused by mutations in genes that make important muscle proteins. (medlineplus.gov)

12 Similar to patients, the dystrophin mutant mdx mice do not express dystrophin 13 and have been widely used as a model system to study DMD and to make important advances in understanding therapeutic strategies as well as the molecular processes and underlying causes of the disease. (nature.com)
identified a spontaneous mutation in C57BL/10ScSn inbred mice that exhibited a disease state similar to human DMD [ 4 ]. (hindawi.com)
We have recently reported that cell-penetrating peptides (CPPs) and novel chimeric peptides containing CPP (referred as B peptide) and muscle-targeting peptide (referred as MSP) motifs significantly improve the systemic exon-skipping activity of morpholino phosphorodiamidate oligomers (PMOs) in dystrophin-deficient mdx mice. (oregonstate.edu)

Orkambi is an oral combination tablet that treats the underlying disease in cystic fibrosis patients aged 12 and older who have 2 copies of the F508del mutation in their cystic fibrosis transmembrane conductance regulator gene. (pharmacytimes.com)
While the FDA doesn't consider cost when deciding whether to approve a new drug, the thought that what is bound to be an extremely expensive treatment (Vertex has priced Kalydeco, which treats people with certain mutations in the cystic fibrosis gene, at more than $300,000 a year ) might be only minimally effective, if that, is sobering. (forbes.com)

Mutations in the DMD gene alter the structure or function of dystrophin or prevent any functional dystrophin from being produced. (medlineplus.gov)
This enables the production of a functional dystrophin protein. (pharmacytimes.com)
Girls have two copies of the X chromosome while boys have only one, and therefore if the single dystrophin gene is non-functional, the essential muscle protein dystrophin is missing. (thenakedscientists.com)

Often referred to as a molecular "shock absorber," dystrophin stabilizes the sarcolemma during muscle contractions to prevent degeneration. (medscape.com)

It targets boys because the affected "dystrophin" gene is on the X chromosome, and boys have only one copy of that. (thenakedscientists.com)
Sue - So these boys have a mutation in the dystrophin gene that is located on the X chromosome. (thenakedscientists.com)
DMD occurs as a result of many mutations in the dystrophin gene of the X chromosome. (humankinetics.com)
Mutations in the Duchenne gene, which is on the X chromosome (thus affecting only boys), impair production of the protein dystrophin, which is required for healthy muscle function. (uclahealth.org)
The disease is associated with a mutation in a gene on the X-chromosome and is mostly found in males. (edu.ph)
90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset. (cdc.gov)

DMD affects one in 3,500 live male births and is caused by mutations in the dystrophin gene. (pharmatimes.com)

This detailed evaluation of the SMT C1100 drug series strongly endorses the therapeutic potential of utrophin modulation as a disease-modifying therapeutic strategy for all DMD patients irrespective of their dystrophin mutation. (drugdiscoverynews.com)
One promising approach uses an injection of small, harmless viruses to deliver therapeutic dystrophin-producing genes directly into cells in the muscle. (medlineplus.gov)

Immune/inflammatory-mediated mechanisms, which result in muscle cell death and/or mechanisms leading to fibrosis, may be important initiators of lesions in dystrophin-deficient muscle. (hindawi.com)

Kyndrisa and eteplirsen work by inducing exon 51 skipping of the dystrophin gene. (pharmacytimes.com)
Approximately 13% of patients with DMD have an exon 51 gene mutation. (pharmacytimes.com)
Exondys 51 (eteplirsen) is an antisense oligonucleotid designed to bind to exon 51 of dystrophin pre-mRNA. (centerwatch.com)
This results in exclusion of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 51 skipping. (centerwatch.com)

Tagrisso, an oral epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI), is the first medication approved to treat patients with non-small cell lung cancer (NSCLC) who develop resistance to first-line TKIs due to the development of the EGFR T790M mutation. (pharmacytimes.com)
An endothelial growth factor receptor compound mutation of T790M substitution with exon 19 deletion in a previously untreated patient: a case report. (nih.gov)

Eleven patients in Study 2 had a muscle biopsy after 180 weeks of treatment with Exondys 51, which was analyzed for dystrophin protein level by Western blot. (centerwatch.com)
In the 12 patients with evaluable results, the pre-treatment dystrophin level was 0.16% ± 0.12% (mean ± standard deviation) of the dystrophin level in a healthy subject and 0.44% ± 0.43% after 48 weeks of treatment with Exondys 51 (p (centerwatch.com)
One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
Mutations were identified in 72% of patients with classical RTT and one third of atypical cases studied (8 of 25). (neurology.org)
8 Subsequent studies have identified MeCP2 mutations in approximately 65% to 80% of patients with classic RTT, although familial cases and clinically atypical cases show a lower incidence of MeCP2 mutations. (neurology.org)
Even so, company officials are undeterred and believe the treatment for the devastating degenerative muscle-wasting disorder caused by a faulty dystrophin gene can still deliver on its promise to help patients. (pharmavoice.com)
The FDA signed off on a controversial accelerated approval of Elevidys in June to treat 4- and 5-year-old patients with a confirmed DMD gene mutation. (pharmavoice.com)
By modifying utrophin to be continuously produced in boys with DMD, this potentially disease-modifying approach could circumvent the need for dystrophin in all patients with this devastating disease. (drugdiscoverynews.com)
Without dystrophin, patients with DMD have chronic damage to muscle fibers during contraction, which leads to progressive muscle deterioration. (managedhealthcareexecutive.com)
In July, the adeno-associated virus vector (AAV)-based SRP-9001 gene therapy was granted accelerated approval by the US Food and Drug Administration for the treatment of ambulatory pediatric patients aged 4-5 years with DMD with a confirmed mutation in the DMD gene. (medscape.com)

Mutations in the dystrophin gene result in dysfunctional or absent dystrophin protein, which plays a key role in maintaining muscle function. (managedhealthcareexecutive.com)

When dystrophin is missing in the body, muscle cells are easily damaged, which causes progressive muscle weakness in the entire body. (guidestar.org)

In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. (medlineplus.gov)
For females living with dystrophinopathy (the spectrum of diseases caused by mutations in the DMD gene), the disorder has not been historically characterized effectively. (parentprojectmd.org)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)

We are using CRISPR genome screening and precision editing in zebrafish to engineer mutations in genes that have been implicated in human congenital heart defects. (seattlechildrens.org)

Ultra-conserved elements are not exempt from mutations, as exemplified by the presence of 29,983 polymorphisms in the UCE regions of the human genome assembly GRCh38. (wikipedia.org)
Cadherin single nucleotide polymorphisms CDH1 (rs16260) and CDH2 (rs11564299) were genotyped by the tetra-Amplification Refractory Mutation System-PCR technique. (bvsalud.org)

In contrast, the gene replacement therapies currently under investigation are designed as one-time treatments to essentially replace the defective dystrophin gene. (managedhealthcareexecutive.com)
Gene therapies "fix" genetic mutations by replacing or changing a gene that doesn't work with one that does. (medlineplus.gov)

It is due to mutations in the DMD gene that preclude the production of the protein dystrophin. (europa.eu)
Exon skipping is intended to allow for production of an internally truncated dystrophin protein. (centerwatch.com)

Steve - As you mentioned, the problem is a mutation or a spelling error in the genetic instructions for a gene called dystrophin, and the actual gene product acts like a little shock absorber. (thenakedscientists.com)

These treatments "fix" the genetic mutations (harmful changes) that cause some diseases by replacing or changing a gene that doesn't work with one that does. (medlineplus.gov)
In some rare diseases, DNA mutations cause a gene or protein to work incorrectly. (medlineplus.gov)

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms. (cdc.gov)

Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. (thermofisher.com)

Dystrophin-glycoprotein complex bridges the inner cytoskeleton (F-actin) and the basal lamina. (medscape.com)
Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. (thermofisher.com)
The disruption of the dystrophin-glycoprotein complex (DGC) is caused by a mutation in the dmd gene, which effects muscle integrity, resulting in progressive muscle degeneration and weakness. (bham.ac.uk)

Investigators collected muscle biopsies during the study to measure dystrophin levels, but the results had not been analyzed yet, she said. (medpagetoday.com)

Sarepta developed three of the four approved exon-skipping drugs , which form a bridge over faulty parts of the dystrophin gene, allowing it to regain some function. (pharmavoice.com)

Diagnosis is suggested clinically and is confirmed by genetic testing or analysis of the protein product (dystrophin) of the mutated gene. (msdmanuals.com)

They are caused by mutations of the dystrophin gene, the largest known human gene, at the Xp21.2 locus. (msdmanuals.com)

Anatomy9

Organisms5

Diseases8

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment22

Phenomena and Processes45

Disciplines and Occupations1

Information Science3

Health Care1

Form of dystrophin4

Nonsense mutations5

Reduced muscle degeneration1

Muscles10

Lack of dystrophin1

Normal dystrophin2

Protein called3

Muscular dystrophy28

Deficiency5

Skeletal5

Absence1

Specific mutations2

Exons4

Becker5

Types of mutations1

Deletions2

Different mutations2

Frameshift1

Clinical5

Membrane3

Insufficient2

Encodes1

Phenotype2

Proteins2

Mice3

Cystic fibrosis2

Functional3

Sarcolemma1

Chromosome6

Multiplex1

Male births1

Therapeutic2

Lesions1

Exon 514

T790M2

Patients10

Absent1

Muscle weakness1

Disorder3

Genes1

Polymorphisms2

Therapies2

Production2

Gene called1

Diseases2

Genomic1

Autosomal1

Complex3

Investigators1

Faulty1

Diagnosis1

Human gene1