GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

Abstract

Sirs: Two Italian siblings, a 18year-old man and a 12-year-old girl, were admitted to our hospital with peripheral neuropathy. The symptoms had started at the age of 5 and 6 years with abnormal gait and weakness in distal leg muscles. The two sibs showed a clinical picture characterized by wasting and severe weakness of the small hand muscles (MRC strength… (More)
DOI: 10.1007/s00415-006-0149-4

Topics

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