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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.


O A Shagina, E L Dadali, V P Fedotov, T B Tiburkova, A V Poliakov. Hereditary motor and sensory neuropathy type 4A]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinskoĭ promyshlennosti Rossiĭskoĭ Federatsii, Vserossiĭskoe obshchestvo nevrologov [i] Vserossiĭskoe obshchestvo psikhiatrov. 2010;110(5 Pt 1):13-6

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PMID: 21322820

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