Certain NEFH Mutations Linked to Atypical Form of CMT

Certain NEFH Mutations Linked to Atypical Form of CMT

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Certain NEFH Mutations Linked to Atypical Form of CMT

Mutations in a particular region of the neurofilament heavy chain or NEFH gene cause an atypical, more severe form of Charcot-Marie-Tooth disease, called type 2CC or CMT2CC, according to a study reporting the cases of 30 patients from eight unrelated families. Notably, the presentation and progression of this subtype more resemble spinal muscular atrophy — a progressive disorder that mainly affects muscles closer to the center of the body — than classic CMT. These findings provide…

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