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Article
Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy
Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot–Marie–Tooth disease (CMTX1) are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy o...
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Article
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F...
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Article
Open AccessDistal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation
Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. Recently, mutations in the small heat shock protein 27 ...
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Article
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease
A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene...
