Abstract

RUBIO GONZALEZ, Tamara; NORBET VAZQUEZ, Lisandra  and  DE PAZ ROSALES, Adriana. Charcot-Marie-Tooth disease in several members of a family. MEDISAN [online]. 2016, vol.20, n.2, pp. 215-221. ISSN 1029-3019.

Charcot-Marie-Tooth disease is a degenerative affection of the peripheral nervous system that presents great genetic and clinic heterogeneity. The presentation with autosomal dominant pattern, well-known in some classifications as type I, is the most frequent; also, the making of the genealogical tree turns out to be the most important instrument to know the inheritance type. To such effects, 2 case reports belonging to a family with 35 members affected by this neurological dysfunction are described, assisted in the Provincial Center of Medical Genetics in Santiago de Cuba

Keywords : Charcot-Marie-Tooth disease; motor sensitive neuropathy; mixed hereditary neuropathy.

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