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- W2317685218 abstract "Charcot-Marie-Tooth (CMT) syndrome is now understood as a genetically diverse disorder with at least 25 underlying gene mutations identified to date. These encode proteins in different locations (myelin, Schwann cells and axons) with different functions but share the common final pathway of axonal degeneration, with a predilection for the largest and longest fibers. The typical CMT phenotype involves distal limb muscle wasting and sensory loss, with proximal pr-ogression over time. However, disease course is varied, reflecting both genotypic and phenotypic heterogeneity. Charcot-Marie-Tooth, or progressive muscular atrophy of the personal type, was described in 1968 by Dyck )as one of a group of hereditary motor sensory neuropathies (HMSN). It is a familial disease transmitted either by an autosomal dominant, X-linked recessive or autosomal recessive gene. This disease affects males more than females by a 5.1:3 ratio (3) . The reported incidence in the United States is 1 in 2,000 (4,5) , affecting more than 125,000 people. However, many clinicians state mild cases of Charcot Marie-Tooth may be" @default.
- W2317685218 created "2016-06-24" @default.
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- W2317685218 date "2014-01-01" @default.
- W2317685218 modified "2023-10-05" @default.
- W2317685218 title "A Detailed Sudy on a Rare Disease--: Charcot Marie Tooth (Cmt)" @default.
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- W2317685218 doi "https://doi.org/10.9790/3008-09212939" @default.
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