Contents of the 15 Chapter for This Charcot-Marie-Tooth Disease Type I A Drug Market Study:-. Chapter 1: to describe Global Charcot-Marie-Tooth Disease Type I A Drug Market Introduction, product scope, market overview, market opportunities, market risk, market driving force;. Chapter 2: to analyze the top manufacturers of Global Charcot-Marie-Tooth Disease Type I A Drug Market, with sales, revenue, and price of Global Charcot-Marie-Tooth Disease Type I A Drug Market, in 2016 and 2017;. Chapter 3: to display the competitive situation among the top manufacturers, with sales, revenue and market share in 2016 and 2017;. Chapter 4: to show the Global Charcot-Marie-Tooth Disease Type I A Drug market by regions, with sales, revenue and market share of Global Charcot-Marie-Tooth Disease Type I A Drug Market, for each region, from 2012 to 2017;. Chapter 5, 6, 7, 8 and 9: to analyze the key regions, with sales, revenue and market share by key countries in these regions;. Chapter 10 and 11: to show the ...
Looking for online definition of Charcot-Marie-Tooth disease type 6 in the Medical Dictionary? Charcot-Marie-Tooth disease type 6 explanation free. What is Charcot-Marie-Tooth disease type 6? Meaning of Charcot-Marie-Tooth disease type 6 medical term. What does Charcot-Marie-Tooth disease type 6 mean?
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; CMT4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease
What is Charcot-Marie-Tooth disease? What are the symptoms of Charcot-Marie-Tooth disease? What causes Charcot-Marie-Tooth disease? What are the types of Charcot-Marie-Tooth disease? How is Charcot-Marie-Tooth disease diagnosed? How is Charcot-Marie-Tooth disease treated? What research is being done? Where can I get more information?
UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 4B2: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4 ...
Symptoms of Charcot-Marie-Tooth disease type X (CMTX) include muscle weakness and atrophy and decreased feeling in the feet, lower legs, hands, and arms.
TY - JOUR. T1 - Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease. AU - Luo, Wei. AU - Tang, Bei Sha. AU - Zhao, Guo Hua. AU - Li, Qi. AU - Xiao, Jianfeng. AU - Yang, Qi Dong. AU - Xia, Jia Hui. PY - 2003/4/1. Y1 - 2003/4/1. N2 - Objective: To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients. Methods: Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve. Results: In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing. Conclusion: Mutation of NF-L gene may be rare in Chinese CMT patients.. AB - Objective: ...
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded by someCx32mutations fail to reach the cell surface; other mutant proteins reach the cell surface, but only one of these forms functional gap junctions. In peripheral nerve, Cx32 is localized to incisures and paranodes, regions of noncompact myelin within the myelin sheath. This localization suggests that Cx32 forms
Charcot-Marie-Tooth disease (CMT) is the name for a group of inherited disorders of nerve conduction causing weakness and mild loss of sensation in the limbs.. CMT affects the peripheral nerves, those groups of nerve cells carrying information to and from the spinal cord. CMT decreases the ability of these nervesto carry motor commands to muscles, especially those furthest from the spinal cord in the feet and hands. As a result, these muscles are weakened. CMT also causes mild sensory loss.. CMT is named for the three neurologists who first described it, and does notinvolve the teeth in any way. It is also known as hereditary motor and sensory neuropathy, and is also sometimes called peroneal muscular atrophy, referring to the muscles in the leg affected early on in the disease.. The symptoms grouped together under the name CMT can be caused by any of at least six different genetic defects. Most of the defects, identified as of early 1998, affect myelin, the coating that insulates nerve cells to ...
Charcot-Marie-Tooth neuropathies (CMT) are inherited neuromuscular disorders caused by length-dependent neurodegeneration of peripheral nerves. More than 900 mutations in 60 different genes are responsible for Charcot-Marie-Tooth neuropathy. Despite significant progress in therapeutic strategies, the disease remains incurable. The increasing number of genes linked to the disease, and their considerable clinical and genetic heterogeneity renders the development of these strategies particularly challenging. In this context, cellular and animals models provide powerful tools. Efficient motor and sensory tests have been developed to assess the behavioral phenotype in transgenic animal models (rodents and fly). When these models reproduce a phenotype comparable to CMT, they allow therapeutic approaches and the discovery of modifiers and biomarkers. The majority of these models concern the demyelinating form (type 1) of the disease. The axonal form (type 2) is less common. Both forms can further be ...
Classifications of Charcot-Marie-Tooth disease refers to the types and subtypes of Charcot-Marie-Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.[1]. ...
What is Charcot-Marie-Tooth Disease? Charcot-Marie-Tooth disease (CMT) is a neurological disorder, named after the three physicians who first described it in 1886 - Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
A 10-year-old girl studied with genetic, clinical, electrodiagnostic, and histopathologic methods showed evidence for both nemaline rod myopathy and Charcot-Marie-Tooth disease. Although Charcot-Marie-Tooth disease was documented in the family, no other members were found to have clinical and electrodiagnostic evidence for a primary myopathy.
Relief is when you and the right researcher find each other Finding the right clinical trial for Charcot-Marie-Tooth Disease Type 4B2 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
A novel gene mutation was found to cause Charcot-Marie-Tooth disease (CMT) in a young patient. Learn more about the researchers findings today.
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination. SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system, and the gene product, SH3TC2, localizes to the perinuclear recycling compartment. Here, we show that SH3TC2 interacts with the small guanosine triphosphatase Rab11, which is known to regulate the recycling of internalized membranes and receptors back to the cell surface. Results of protein binding studies and transferrin receptor trafficking are in line with a role of SH3TC2 as a Rab11 effector molecule. Consistent with a function of Rab11 in Schwann cell myelination, SH3TC2 mutations that cause neuropathy disrupt the SH3TC2/Rab11 interaction, and forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro. Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the
A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalos (UBs) Hunter James Kelly Research Institute and their colleagues in Italy and England. The institute is the research arm of the Hunters Hope Foundation, established in 1997 by Jim Kelly, Buffalo Bills Hall of Fame quarterback, and his wife, Jill, after their infant son Hunter was diagnosed with Krabbe leukodystrophy, an inherited fatal disorder of the nervous system. Hunter died in 2005 at the age of eight. The institute conducts research on myelin and its related diseases with the goal of developing new ways of understanding and treating conditions such as Krabbe disease and other leukodystrophies. Charcot-Marie-Tooth or CMT disease, which affects the peripheral nerves, is among the most common of hereditary neurological disorders; it is a disease of myelin and it results from misfolded proteins in cells that produce ...
Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. {7,8:Warner et al. (1997, 1998)} noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation. There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; {145900}), because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see {1:Balestrini et al., 1991}), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to ...
Find all books from International Conference on Charcot-Marie-Tooth Disease 1998 Sainte-a, Michael E. Shy, Robert E. Lovelace, John Kamholz - Charcot-Marie-Tooth Disorders: Papers Presented at the Third International Conference on October 21-24 1998, in Sainte-Adele, Quebec, Canada (Annals of the New York Academy of Sciences). At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 1573311820
Charcot-Marie-Tooth Disease(CMT)/Type 1 HMSN Type 1 hereditary motor and sensory neuropathy (HMSN) is an inherited disorder characterised by degeneration of the posterior columns of the spinal cord, loss of anterior horn cells with degeneration of the spinocerebellar tracts, demyelination of per ...
Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies. Recently, three CMT1-associated point mutations (I43N, T51P, and I52T) were discovered in the abundant peripheral myelin protein P2. These mutations trigger abnormal myelin structure, leading to reduced nerve conduction velocity, muscle weakness, and distal limb atrophy. P2 is a myelin-specific protein expressed by Schwann cells that binds to fatty acids and membranes, contributing to peripheral myelin lipid homeostasis. We studied the molecular basis of the P2 patient mutations. None of the CMT1-associated mutations alter the overall folding of P2 in the crystal state. P2 disease variants show increased aggregation tendency and remarkably reduced stability, T51P being most severe. In addition, P2 disease mutations affect protein dynamics. Both fatty acid binding by P2 and the kinetics of its membrane interactions are affected by the mutations. Experiments and simulations suggest opening of the β barrel in T51P, ...
Three recurrent mutations were also identified during sequencing. Two families (nos. 264 and 265) showed a previously reported nonsense mutation predicting truncation of the protein at amino acid 220. [17] One family (no. 69) showed a codon 139 valine right arrow methionine missense mutation, also in the third transmembrane domain. [9] Another family (no. 269) showed recurrence of the codon 156 leucine right arrow arginine missense mutation located in the second extracellular loop. [9] None of the reported families with the same mutation are known to be related. In most cases, families with the same mutation are from different geographic regions. For example, family 69 is from New York, and the other two families with the identical mutation are from South Dakota and Michigan, with no known New York connection.. Nine families analyzed had no mutation within the coding region of Cx32. Seven of these represent sporadic cases, one has affected members in only two generations, and another is a large, ...
2. Gururaj G, Isaac MK, Subbakrishna DK, Ranjani R. Risk factors for completed suicides: a case-control study from Bangalore, India. Injury Control Safety Promotion 2004; 11: 183-91 (b) Wasserman D, Cheng Q, Jiang G. Global suicide rates among young people aged 15-19. World Psychiatry 2005; 4: 114-20 (c) Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 2005; 116: 222-4.. 3. Iemmi V, Bantjes J, Coast E, Channer K, Leone T, McDaid D, et al. Suicide and poverty in low-income and middle-income countries: a systematic review. Lancet Psychiatry 2016; 3: 774-83.. 4. Barraclough B, Bunch J, Nelson B, Sainsbury P. A hundred cases of suicide: clinical aspects. Br J Psychiatry 1974; 125: 355-73 (b) Dorpat TL, Ripley HS. A study of suicide in the Seattle area. Comprehensive Psychiatry 1960; 1: 349-59 (c) Cao W, Wu T, An T, Li L. [Study on the mortality of injury in Chinese population in urban and ...
Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system. We generated a transgenic mouse model of CMT2A that developed severe early onset vision loss and neurological deficits, axonal degeneration without cell body loss, and cytoplasmic and axonal accumulations of fragmented mitochondria. While mitochondrial aggregates were labeled for mitophagy, mutant MFN2 did not inhibit Parkin-mediated degradation, but instead had a dominant negative effect on mitochondrial fusion only when MFN1 was at low levels, as occurs in neurons. Finally, using a transgenic approach, we found that augmenting the level of MFN1 in the nervous system in vivo rescued all phenotypes in mutant MFN2R94Q-expressing mice. These data demonstrate that the MFN1/MFN2 ratio is a key determinant of tissue specificity in CMT2A and indicate that ...
Marco, A (2003) Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes. Molecular Biology and Evolution, 21 (1). 176 - 187. ISSN 0737-4038 ...
Charcot-Marie-Tooth, or CMT, most common inherited peripheral neuropathy. Discovered in 1886 by, Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth
Dont let the name mislead you. Charcot-Marie-Tooth disease has nothing to do with dental health. Its a neurological disorder of the peripheral nervous system. French physicians Jean-Martin Charcot and Pierre Marie and British physician Henry Tooth were the first three... Read More. ...
Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in the feet lower legs forearms and hands
... is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.
Charcot-Marie-Tooth disease, Type 2E information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Learn more about Charcot-Marie-Tooth Disease at Atlanta Outpatient Surgery Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Charcot-Marie-Tooth Disease at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Missense mutations (K141N and K141E) in the α-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is currently unknown. To address this question, we compared the effect of mutant HSPB8 in primary neuronal and glial cell cultures. In motor neurons, expression of both HSPB8 K141N and K141E mutations clearly resulted in neurite degeneration, as manifested by a reduction in number of neurites per cell, as well as in a reduction in average length of the neurites. Furthermore, expression of the K141E (and to a lesser extent, K141N) mutation also induced spheroids in the neurites. We did not detect any signs of apoptosis in motor neurons, showing that mutant HSPB8 resulted in neurite degeneration without inducing neuronal death. While overt in motor neurons, these phenotypes were only very mildly ...
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4-Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein 22 (PMP22), a protein primarily expressed in myelinating Schwann cells (1, 2). In this issue, Zhao et al. treated two rodent models of CMT1A with PMP22-targeting antisense oligonucleotides (ASOs)and showed a 35% reduction in PMP22 mRNA (3). This reduction was not only adequate in slowing disease progression, but also improved the CMT1A-associated phenotypes in both models. These results are exciting for CMT1A researchers for several reasons. First, CMT1A is the most common inherited neuropathy, affecting 1:5,000 individuals. Second, severity of CMT1A appears to be dependent on PMP22 copy number, as patients with 4 copies of PMP22 have more severe neuropathy than typical CMT1A patients, who have 3 copies of PMP22 (4). Additionally, patients with missense mutations in PMP22 develop neuropathies that are similar to CMT1A (5). Taken together, these data ...
OMIM : 58 Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, 118220) and/or axonal CMT (see, e.g., CMT2A1, 118210) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; 182960) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. (608895) ...
The overall goal of my laboratory is to understand the molecular mechanisms of neuromuscular diseases using in vitro and animal modeling, based on insights from human genetics, to develop novel therapeutic agents. We are particularly interested in inherited neuropathy (Charcot-Marie-Tooth disease), and amyotrophic lateral sclerosis (ALS). The molecular pathways defined by genes mutated in hereditary neuromuscular diseases provide insight into molecular pathogenesis, and are potential candidates for therapeutic manipulation. To investigate mechanisms of motor neuron disease/ALS we are exploring the role of mutations in both the repeat expansion in the C9ORF72 gene, and point mutations in the TARDBP gene, using human induced pluripotent stem cell (iPSC)-derived motor neurons and mouse models. To investigate Charcot-Marie-Tooth disease we are studying (i) the mechanism of mutations in the Mitofusin 2 gene in axonal CMT, and (ii) the use of iPSC-derived Schwann cells from patients with CMT type 1A ...
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this disease. Here, we show that antisense oligonucleotides (ASOs) effectively suppress PMP22 mRNA in affected nerves in 2 murine CMT1A models. Notably, initiation of ASO treatment after disease onset restored myelination, MNCV, and CMAP almost to levels seen in WT animals. In addition to disease-associated gene expression networks that were restored with ASO treatment, we also identified potential disease biomarkers through transcriptomic profiling. Furthermore, we demonstrated that reduction of PMP22 mRNA in skin biopsies from ASO-treated rats is a suitable biomarker for evaluating target engagement in ...
Charcot-Marie-Tooth (CMT) disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known metabolic derangements.
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011 ...
Mutations in heat shock 27 kDa protein 1 (HSP27 or HSPB1) cause distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth disease type 2 F (CMT2F) according to unknown factors. Mutant HSP27 proteins affect axonal transport by reducing acetylated tubulin. We generated a transgenic mouse model overexpressing HSP27-S135F mutant protein driven by Cytomegalovirus (CMV) immediate early promoter. The mouse phenotype was similar to dHMN patients in that they exhibit motor neuropathy. To determine the phenotypic aberration of transgenic mice, behavior test, magnetic resonance imaging (MRI), electrophysiological study, and pathology were performed. Rotarod test showed that founder mice exhibited lowered motor performance. MRI also revealed marked fatty infiltration in the anterior and posterior compartments at calf level. Electrophysiologically, compound muscle action potential (CMAP) but not motor nerve conduction velocity (MNCV) was reduced in the transgenic mice. Toluidine staining with semi-thin
Approximately four hundred mutations of the GJB1 gene have been identified in people with X-linked Charcot-Marie-Tooth disease (CMTX).[14] CMTX is predominantly classified with symptoms related to muscle weakness and sensory problems, especially in the outer extremities of the limbs.[8] CMTX is the second most common type of CMT (about 10% of all patients) and is transmitted as an x-linked dominant trait.[7] It is categorised by the lack of male-to-male transmission of the mutated GJB1 gene and the differences in severity between heterozygous women and hemizygous men, with the later being more severely affected.[11]. Most of the mutations of the GJB1 gene switch or change a single amino acid in the gap junction (connexin-32) protein, although some may result in a protein of irregular size.[7][11][13][14] Some of these mutations also cause hearing loss in patients with CMTX.[14] Currently it is unknown how the mutations of the GJB1 gene lead to these specific features of Charcot-Marie-Tooth ...
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List of 16 disease causes of Constant distal muscle weakness, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Constant distal muscle weakness.
Read about how and why Charcot-Marie-Tooth disease can cause a loss of hearing, and what might be done to help people with such loss.
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Charcot (shahr-KOH)-Marie-Tooth disease is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also known as hereditary motor and sensory neuropathy.
GENEVA -- (Marketwire) -- 01/07/13 -- Addex Therapeutics / Addex Announces Positive Data with ADX71441 in a Pre-Clinical Transgenic Model of Charcot-Marie-Tooth 1A Disease . Processed and transmitted by Thomson Reuters ONE. The issuer is solely responsible for the content of this announcement. ADX71441, a novel oral small molecule positive allosteric modulator, on track for Phase 1 clinical testing in the first half of 2013 Addex Therapeutics (SIX: ADXN), a leading company pioneering allosteric modulation-based drug discovery and development, announced today achievement of a positive Proof of Concept for its lead GABA-B receptor (GABA-BR) positive allosteric modulator (PAM) compound, ADX71441, in a validated pre-clinical model of Charcot-Marie-Tooth 1A (CMT1A). CMT1A is a rare (1:5,000) hereditary motor and sensory demyelinating peripheral neuropathy (also known as Hereditary Motor and Sensory Neuropathy, HMSN) which is caused by an intrachromosomal duplication and consecutive toxic ...
Definition : Molecular assay reagents intended to identify mutations in the mitofusin 2 (MFN2) gene, located at chromosome 1p36.22, which encodes for mitofusin 2 protein, that helps determine the morphology of mitochondria. Mutations at this locus have been identified in patients with Charcot-Marie-Tooth neuropathy type 2A2 (CMT2A2).. Entry Terms : "Chacot-Marie-Tooth Neuropathy Type 2A (CMT2A) Gene Mutation Reagents" , "MFN2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MFN2". UMDC code : 24606 ...
Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation. CMT is classified as follows:
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