Article
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
European journal of human genetics : EJHG - 1 Dec 2003
de Paula Flavia, Vieira Natássia, Starling Alessandra, Yamamoto Lydia Uraco, Lima Bruno, de Cássia Pavanello Rita, Vainzof Mariz, Nigro Vincenzo, Zatz Mayana
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin-related protein gene (FKRP) gene. Pathogenic changes in the same gene were detected in congenital muscular dystrophy patients (MDC1C), a severe disorder. We have screened 86 LGMD genealogies to assess the frequency and distribution of mutations in the FKRP gene in Brazilian LGMD patients....
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