Skeletal limb girdle muscular dystrophy muscular dystrophies limb girdle. Medical search. Frequent questions

Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. (wikipedia.org)
LGMD may be triggered or worsened in genetically susceptible individuals by statins, because of their effects on HMG-CoA reductase By definition, all limb girdle muscular dystrophies (LGMD) cause progressive proximal weakness, meaning weakness of the muscles on or close to the torso that worsens over time. (wikipedia.org)
By definition, LGMDs primarily affect skeletal muscles, although cardiac muscle can be affected to a lesser degree in select subtypes, which can cause palpitations There can be significant variability in disease features and severity between LGMD subtypes, and even within any given LGMD subtype. (wikipedia.org)
Limb-girdle muscular dystrophy is explained in terms of gene, locus, OMIM and type as follows: For a disease entity to be classified as an LGMD, the following criteria must be met: genetic, with an identifiable inheritance pattern such as autosomal dominant, autosomal recessive, digenic, or polygenic. (wikipedia.org)
relatively selective to skeletal muscle predominantly proximal muscle involvement independent walking is achieved at one point in life elevated serum creatine kinase muscle fiber loss dystrophic changes in muscle histology degenerative changes on medical imaging end-stage pathology seen in the most affected muscles described in at least two unrelated families Many diseases can manifest similarly to LGMD. (wikipedia.org)
Patients with limb-girdle muscular dystrophy (LGMD) who develop an equinus foot deformity can benefit from tendon-lengthening surgery and/or knee-ankle-foot orthoses or ankle-foot orthoses to maintain mobility. (medscape.com)
Limb-girdle muscular dystrophy (LGMD) refers to a group of disorders that manifest as weakness and wasting of arm and leg muscles, with muscles of the shoulders, upper arms, pelvic area, and thighs being most frequently involved. (medscape.com)
Skeletal muscle MRI studies in limb-girdle muscular dystrophy (LGMD) have increased over the past decades, improving the utility of MRI as a differential diagnostic tool. (mdpi.com)
Matthew Aguirre, a junior applied math concentrator at Harvard College, worked to develop a cellular model of limb-girdle muscular dystrophy (LGMD) patient mutations. (broadinstitute.org)
The limb-girdle muscular dystrophies (LGMD) encompass a number of rare genetic disorders that inhibit maintenance and repair processes in muscle cells, leading to weakness and eventual wasting of skeletal and cardiac muscle. (broadinstitute.org)
Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. (neurology.org)
Making the diagnosis of a particular type of limb girdle muscular dystrophy (LGMD) can appear challenging. (bmj.com)
Diagnosing the various disorders within the "limb girdle muscular dystrophies" (LGMD) requires information from the clinical presentation and the results of various investigations, such as serum creatine kinase (CK), muscle biopsy and genetic testing ( fig 1 ). (bmj.com)
Diagnosing limb girdle muscular dystrophies (LGMD). (bmj.com)
Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies. (medscape.com)
Limb girdle muscular dystrophy (LGMD) is a group of genetic muscle disorders which are mainly characterized by weakness and wasting of the muscles of the pelvic and pectoral girdles. (symptoma.com)
LGMD affects the voluntary muscles of the hip and shoulder areas, called the limb girdles. (healthify.nz)
Methods We analysed 104 in-laboratory sleep studies of 73 patients with MD with five common types (DMD-Duchenne, Becker MD, CMD-congenital, LGMD-limb-girdle and DM-myotonic dystrophy). (bmj.com)
This study looks into five major types of MD (Duchenne MD, Becker MD, congenital MD, LGMD-limb-girdle and DM-myotonic dystrophy). (bmj.com)

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)
Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. (wikidoc.org)
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness . (symptoma.com)
Some mutations can cause both a myofibrillar myopathy and a muscular dystrophy phenotype. (symptoma.com)
Muscular dystrophies are genetic diseases caused by mutations in genes encoding muscle proteins, leading to progressive muscle degeneration 1 . (plos.org)
Mutations in the genes encoding dystrophin or dystrophin-associated proteins are responsible for Duchenne muscular dystrophy or various forms of limb-girdle muscular dystrophies respectively. (ox.ac.uk)
As its name suggests, LAMA2 -related muscular dystrophy is caused by mutations in the LAMA2 gene. (medlineplus.gov)
Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2 -related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. (medlineplus.gov)
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (research.com)
In Duchenne dystrophy, these mutations result in the severe absence ( 5%) of dystrophin, a protein in the muscle cell membrane. (msdmanuals.com)
In Becker dystrophy, the mutations result in production of abnormal dystrophin or insufficient dystrophin. (msdmanuals.com)

Silencing the expression of the double homeobox 4 ( DUX4 ) gene offers great potential for the treatment of facioscapulohumeral muscular dystrophy (FSHD). (mdpi.com)
Next most frequent are the dystrophinopathies and facioscapulohumeral muscular dystrophy making up 22.9% (8.46/100,000) and 10.7% (3.95/100,000) of the clinic population, respectively. (nih.gov)
Лицево-лопаткова м'язова дистрофія Facioscapulohumeral muscular dystrophy is the most prevalent type of muscular dystrophy. (msdmanuals.com)

His studies in Limb-girdle muscular dystrophy integrate themes in fields like Missense mutation, Sarcospan, Genetic linkage, Locus and Gene mapping. (research.com)

Normal dystrobrevin staining is observed in patients with other forms of limb-girdle muscular dystrophy where dystrophin and the rest of the dystrophin-associated protein complex are normally expressed and in other neuromuscular disorders. (ox.ac.uk)

There are several types of muscular dystrophy in the muscles, Weakness of muscles mainly occur due to the loss of muscle mass and the strength in the muscles. (naturalayurvedictreatment.com)
What are the different types of muscular dystrophy? (healthify.nz)
There are several recognised types of muscular dystrophy (MD). These are described below. (healthify.nz)

The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. (nih.gov)
It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. (medlineplus.gov)

Weakness of the shoulder girdle can make lifting objects, or even elevating the arms, difficult or impossible. (wikipedia.org)
With childhood onset, especially during the growth period, the goal of therapy is aggressive prevention of contractures at the hip and shoulder girdle, via stretching. (medscape.com)
Given the slowly progressive nature of the disease, the prudent approach to exercise therapy is to prescribe active-assistive and resistive movements and preserve and maintain muscle strength in the pelvic and shoulder girdle musculature. (medscape.com)
[ 5 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
Clinical features include weakness of the hip and shoulder girdle, difficulty walking , spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. (symptoma.com)
It is characterized by weakness of the facial muscles and shoulder girdle. (msdmanuals.com)

A study by Jensen et al found that in patients severely affected with Becker or limb-girdle muscular dystrophy, combined strength and aerobic antigravity training led to improved closed-kinetic-chain leg muscle strength, although without improvement in isometric knee extension strength or absolute rate of force development. (medscape.com)
A Turkish study examined the effects of breathing exercises and threshold muscle training on maximal inspiratory and expiratory pressures in patients with either limb-girdle or Becker muscular dystrophy. (medscape.com)
Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. (research.com)
Becker dystrophy has later onset and causes milder symptoms. (msdmanuals.com)
In Becker dystrophy, 85% of patients have a deletion, and 10% have a duplication. (msdmanuals.com)

Usually, the hip girdle is the first area to exhibit weakness, manifesting as difficulty walking, going up and/or down stairs, rising from a chair, bending at the waist, or squatting. (wikipedia.org)
Because of the functional weakness and contractures in the upper and lower extremities of patients with limb-girdle dystrophy, special attention should be given to the frame, seat, backrest, front rigging, rear wheels, and casters. (medscape.com)
At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
Between 1909 and 1954, many individual case reports of primary muscle disease with a limb-girdle distribution of weakness were published. (medscape.com)
In 1954, when Walton and Nattrass reported 105 cases of limb-girdle weakness associated with many other disorders, the nosologic entity of limb-girdle dystrophy was formally established. (medscape.com)
A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls . (symptoma.com)
Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. (nih.gov)
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. (nih.gov)
Muscle biopsy is often helpful to determine if weakness is caused by muscular dystrophy, an inherited disorder, or by other acquired causes of muscle degeneration such as from inflammation or toxic exposure. (symptoma.com)
Generally, the first symptom that people with limb-girdle muscular dystrophy will notice is muscle weakness that causes trouble walking, resulting in a 'waddling' gait and difficulty climbing stairs or getting up from chairs. (symptoma.com)
It is a long term genetic disorder which affects muscle function, during this dystrophy muscle loss and weakness are the results. (naturalayurvedictreatment.com)
Although it is a commonly held belief that carriers merely pass on the disease and are unaffected, female carriers can have similar muscular weakness as affected males. (healthify.nz)
His work deals with themes such as Congenital muscular dystrophy and Muscle weakness, which intersect with Pathology. (research.com)
Weakness affects proximal muscles, typically in the lower limbs initially. (msdmanuals.com)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. (bvsalud.org)

EDG-5506 is an investigational orally administered small molecule myosin modulator designed to protect injury-susceptible fast skeletal muscle fibers in dystrophinopathies such as Duchenne muscular dystrophy (DMD) and BMD. (businesswire.com)

Limb girdle muscular dystrophy 2D (LGMD2D) is a less common autosomal recessive form of muscular dystrophy resulting from mutation of the α-sarcoglycan gene (SGCA) on chromosome 17. (plos.org)
Limb girdle muscular dystrophy 2B (LGMD2B) is another autosomal recessive form of muscular dystrophy resulting from mutation of the dysferlin gene ( DYSF ) on chromosome 2. (plos.org)
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (research.com)

The diagnosis of limb-girdle muscular dystrophy can be done via muscle biopsy, which will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a patient has. (wikipedia.org)
The 2014 Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies indicates that individuals suspected of having the inherited disorder should have genetic testing. (wikipedia.org)
2014). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). (nih.gov)
Duchenne muscular dystrophy (DMD) is a genetic disease characterized with muscular problem that weakens or degenerates the muscles. (naturalayurvedictreatment.com)
When voluntary muscles get weakened due to genetic conditions, this disease of Duchenne muscular dystrophy takes place. (naturalayurvedictreatment.com)
This condition can occur with no known family history of BMD or DMD, so all females who are suspected of having any form of muscular dystrophy should be tested to determine if they could be a manifesting carrier because of the genetic implications. (healthify.nz)

We have partially sequenced rabbit skeletal muscle γ-sarcoglycan an integral component of the dystrophin-glycoprotein complex. (elsevierpure.com)
Anti-dystrobrevin antibodies stain the sarcolemma in normal skeletal muscle indicating that dystrobrevin co-localises with dystrophin and the dystrophin-associated protein complex. (ox.ac.uk)
By contrast, dystrobrevin membrane staining is severely reduced in muscles of Duchenne muscular dystrophy patients, consistent with dystrobrevin being a dystrophin-associated protein. (ox.ac.uk)
Our results show that dystrobrevin-deficiency is a generic feature of dystrophies linked to dystrophin and the dystrophin-associated proteins. (ox.ac.uk)
This is the first indication that a cytoplasmic component of the dystrophin-associated protein complex may be involved in the pathogenesis of limb-girdle muscular dystrophy. (ox.ac.uk)
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. (medscape.com)
González-Herrera L, Gamas-Trujillo PA, García-Escalante MG, Castillo-Zapata I, Pinto-Escalante D. [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. (medscape.com)
Mariz Vainzof spends much of his time researching Muscular dystrophy, Genetics, Limb-girdle muscular dystrophy, Sarcoglycanopathies and Dystrophin. (research.com)
His primary areas of investigation include Genetics, Muscular dystrophy, Dystrophin, Pathology and Internal medicine. (research.com)
His Pathology research includes themes of Adipose tissue and Muscular dystrophy, Dystrophin. (research.com)
His Pathology research is multidisciplinary, incorporating perspectives in Muscle dystrophy, Dystrophin and Transverse Relaxation Time. (research.com)
His Dystrophin study is focused on Muscular dystrophy in general. (research.com)

It is a genetically and clinically heterogeneous group of rare muscular dystrophies. (naturalayurvedictreatment.com)

Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
To facilitate gene and cell therapy experiments, we created severely immune-deficient mouse models of Duchenne muscular dystrophy (DMD), limb girdle muscular dystrophy 2B (LGMD2B), and limb girdle muscular dystrophy 2D (LGMD2D) by crossing mdx 4Cv , Bl/AJ, and Sgca-null mice with NRG immune-deficient mice. (plos.org)
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy, characterized by widespread degeneration of the skeletal, respiratory, and cardiac muscles, resulting in disability and premature death. (plos.org)
DMD One out of 5000 males is suffering from Duchenne Muscular Dystrophy. (naturalayurvedictreatment.com)
Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics) . (medscape.com)
Donders J, Taneja C. Neurobehavioral characteristics of children with Duchenne muscular dystrophy. (medscape.com)
Intelligence and the gene for Duchenne muscular dystrophy. (medscape.com)
Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. (medscape.com)
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. (medscape.com)
Sussman MD. Advantage of early spinal stabilization and fusion in patients with Duchenne muscular dystrophy. (medscape.com)
Surgical stabilization of the spine in Duchenne muscular dystrophy. (medscape.com)
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. (medscape.com)
Mariz Vainzof mostly deals with Duchenne muscular dystrophy, Gene, Genetics, Pathology and Stem cell. (research.com)

LGMD2B leads to a later-onset, milder form of muscular dystrophy characterized by progressive degeneration of skeletal muscles and resulting disability 1 , 4 . (plos.org)
This disease is the most common form of muscular dystrophy. (naturalayurvedictreatment.com)

Patients with muscular dystrophy should be managed through a clinic with access to specialties that address neuromuscular disorders, including physical therapy, occupational therapy, respiratory therapy, speech and swallowing therapy, cardiology, pulmonology, orthopedics, and genetics. (medscape.com)
Symptoms of late-onset LAMA2 -related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. (medlineplus.gov)
These disorders ranged from a point prevalence of 0.89/100 000 for the group of congenital muscular dystrophies to conditions with only two affected individuals in a population of three million. (nih.gov)
For the first time our study provides epidemiological information for X-linked Emery-Dreifuss muscular dystrophy and the collagen VI disorders. (nih.gov)

Bushby K. Genetics and the muscular dystrophies. (medscape.com)

Indeed symptoms range from relatively mild late-onset muscular dystrophy, to perinatally lethal severe muscular dystrophy with significant neurological abnormalities. (enmc.org)
Pathological cellular hallmarks of incurable forms of severe muscular dystrophy could be modeled with high fidelity using this 3D platform. (figshare.com)

June 21, 2023 - Notice of Intent to Publish a Funding Opportunity Announcement for Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRC) (P50 Clinical Trial Optional). (nih.gov)
These Centers promote collaborative basic, translational, and clinical research and provide important resources that can be used by the national muscular dystrophy research communities. (nih.gov)
Dobrowski JM, Zajtchuk JT, LaPiana FG, Hensley SD Jr. Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. (medscape.com)

In late-onset LAMA2 -related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. (medlineplus.gov)
Children with late-onset LAMA2 -related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. (medlineplus.gov)

[ 55 ] The authors concluded that exercise training in ambulatory patients with muscular dystrophy can increase the patients' respiratory muscle strength and suggested that such therapy be included in their treatment. (medscape.com)
Similar treatment programs, especially focusing on the shoulder, should be instituted in the upper extremities in patients with limb-girdle muscular dystrophy. (medscape.com)
Specific antibodies were produced against a γ-sarcoglycan peptide and used to examine the expression of γ-sarcoglycan in skeletal muscle of patients with severe childhood autosomal muscular dystrophy linked to chromosome 13q12 (SCARMD). (elsevierpure.com)
We show by immunofluorescence and Western blotting that in skeletal muscle from these patients γ-sarcoglycan is completely absent and α- and β-sarcoglycan are greatly reduced in abundance, whereas other components of the DGC are preserved. (elsevierpure.com)
Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced pluripotent stem cells (iPSCs) from patients with Duchenne, limb-girdle, and congenital muscular dystrophies. (figshare.com)
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. (ox.ac.uk)
Interestingly, dystrobrevin staining at the sarcolemma is dramatically reduced in patients with limb-girdle muscular dystrophy arising from the loss of one or all of the sarcoglycan components. (ox.ac.uk)
Spinal muscular atrophy patients account for 5.1% or 1.87/100,000 patients. (nih.gov)
Background The characteristics of and relationship between sleep apnoea and hypoventilation in patients with muscular dystrophy (MD) remain to be fully understood. (bmj.com)
Patients who have Duchenne dystrophy should be offered prednisone or deflazacort and sometimes exon-skipping treatments using antisense oligonucleotides. (msdmanuals.com)

These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. (medscape.com)

Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. (figshare.com)
His Muscular dystrophy study integrates concerns from other disciplines, such as Endocrinology and Pathology. (research.com)

Early-onset LAMA2 -related muscular dystrophy is apparent at birth or within the first few months of life. (medlineplus.gov)
Children with early-onset LAMA2 -related muscular dystrophy often do not develop the ability to walk. (medlineplus.gov)
The prevalence of LAMA2 -related muscular dystrophy is estimated at between 1 in 50,000 and 1 in 400,000 individuals worldwide. (medlineplus.gov)
Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2 -related muscular dystrophy. (medlineplus.gov)

This condition is thought to be the most common type of congenital muscular dystrophy, accounting for between 30 and 40 percent of total cases. (medlineplus.gov)

When limb-girdle muscular dystrophy begins in childhood, the progression appears to be faster and the disease more disabling. (wikipedia.org)
The natural history of limb-girdle muscular dystrophy is one of gradual progression over years, with life expectancy beyond the fifth and sixth decades of life. (medscape.com)

Matriglycan is indeed a scaffold for multiple laminin-G (LG) domain-containing extracellular matrix proteins (e.g. laminin, agrin, and perlecan) and it has the remarkable capacity to be tuned during skeletal muscle development and regeneration. (enmc.org)

It is the condition which affects mainly the muscles used for the movements, such as skeletal muscles and also affects the cardiac muscles. (naturalayurvedictreatment.com)
It is a condition that hits the muscles which help us in the movement of body, such as skeletal muscles and it also affects the cardiac muscles. (naturalayurvedictreatment.com)

Defects in matriglycan synthesis result in the dystroglycanopathies, which include both congenital and limb-girdle muscular dystrophies, that can also be accompanied by structural brain and eye abnormalities. (enmc.org)

Shapiro F, Specht L. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. (medscape.com)

In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)

of muscles used for movement (skeletal muscles). (medlineplus.gov)
EDMD mainly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. (healthify.nz)

3D skeletal myogenic differentiation of pluripotent cells was induced within hydrogels under tension to provide myofiber alignment. (figshare.com)

This muscular dystrophy has signs and symptoms which are very similar to those of Duchene muscular dystrophy. (naturalayurvedictreatment.com)

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. (medscape.com)
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. (medscape.com)

Artificial muscles recapitulated characteristics of human skeletal muscle tissue and could be implanted into immunodeficient mice. (figshare.com)

Juvenile limb-girdle muscular dystrophy. (wikidoc.org)

His Locus course of study focuses on Myotilin and Zebrafish and Limb-girdle muscular dystrophy. (research.com)

It is included in α-dystroglycanopathy, an entity of muscular dystrophies caused by reduced glycosylation of α-dystroglycan (α-DG). (intechopen.com)

Myotonic dystrophies are the most common, comprising 28.6% of our clinic population with a point prevalence of 10.6/100,000. (nih.gov)
Limb girdle muscular dystrophy, which was described for the first time in the paper by Walton and Nattrass (1954) and comprised 17% of their clinic population, comprises 6.2% of our clinic population at a combined prevalence of 2.27/100,000. (nih.gov)
Each of the X-linked form of Emery-Dreifuss muscular dystrophy and Ullrich muscular dystrophy has a prevalence of 0.13/100,000, making both very rare. (nih.gov)

Finally, we show generation of fully human iPSC-derived, complex, multilineage muscle models containing key isogenic cellular constituents of skeletal muscle, including vascular endothelial cells, pericytes, and motor neurons. (figshare.com)

Anatomy15

Organisms1

Diseases24

Chemicals and Drugs19

Analytical, Diagnostic and Therapeutic Techniques and Equipment7

Phenomena and Processes9

Disciplines and Occupations1

Health Care1

LGMD19

Mutations11

Facioscapulohumeral3

Studies in limb-girdle mu1

Forms of limb girdle mu1

Types of muscular dystrophy3

Congenital muscular dystroph2

Shoulder girdle6

Becker5

Weakness15

Dystrophinopathies1

Mutation3

Genetic6

Dystrophin12

Heterogeneous group1

Duchenne Muscular13

Form of muscular dystrophy2

Disorders4

Genetics1

Severe muscular dystrophy2

Clinical3

Late-onset2

Patients10

Autosomal dominant2

Pathology2

LAMA24

Type1

Progression2

Proteins1

Cardiac muscles2

Defects1

Diagnosis1

Degeneration1

Muscles used for movement2

Differentiation1

Symptoms1

Abnormalities2

Characteristics1

Juvenile1

Locus1

Glycosylation1

Prevalence3

Cellular1