HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Abstract excerpt

Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report...

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• Share to Charcot-Marie-Tooth Disease
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