Article
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).
Neuromuscular disorders : NMD - 1 Jan 2004
Tonini M M O, Passos-Bueno M R, Cerqueira A, Matioli S R, Pavanello R, Zatz M
Abstract excerpt
Facioscapulohumeral muscular dystrophy is an autosomal dominant muscle disorder, mapped to 4q35. It is characterized by remarkable inter- and intrafamilial clinical variability ranging from severe phenotype to asymptomatic carriers. The aim of the present study was to assess the size of the Eco RI fragment in a large sample of asymptomatic or minimally affected carriers as well as symptomatic patients, comparing...
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