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HMSN (CMT) Type 4 A

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Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(5 Pt 1):13-6.

Hereditary motor and sensory neuropathy type 4A.

[Article in Russian]

[No authors listed]

Abstract

The first in the Russian Federation clinical cases of patients with

autosomal-recessive type of hereditary motor and sensory neuropathy, type 4A,

(HMSN 4A) are presented. In all cases, the diagnosis has been verified using

molecular-genetic methods (DNA diagnostics). An analysis of features of clinical

manifestations was performed in patients, aged from 5 to 34 years, with

different disease duration (from 3-to 29 years). Criteria of selection of

patients for DNA diagnostics for searching mutations in the GDAP1 gene are

specified.

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