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Hereditary motor and sensory neuropathy type 4A

Shagina, O.A.; Dadali, E.L.; Fedotov, V.P.; Tiburkova, T.B.; Poliakov, A.V.

Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova 110(5 Part 1): 13-16

2010

ISSN/ISBN: 1997-7298
PMID: 21322820
Document Number: 641849
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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