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[Sarcoglycanopathies, a particular limb-girdle muscular dystrophy type (phenotype in three Polish families): initial
Małgorzata Dorobek1, Anna Fidziańska-Dolot
1Zespołu Badawczo-Leczniczego Chorób Nerwowo-Mieśniowych, Centrum Medycyny Doświadczalnej i Klinicznej, PAN, Kliniki Neurologicznej Akademii Medycznej w Warszawie. mdorobek@amwaw.edu.pl
Neurologia I Neurochirurgia Polska
|April 29, 2003
Abstract:
Sarcoglycanopathies are relatively rare progressive muscular dystrophies. They belong to the so-called group of limb--girdle muscular dystrophies. They are inherited in an autosomal recessive fashion. Their phenotype resembles dystrophinopathies, because of proximal muscle weakness and frequent calves hypertrophy. Here we present the first Polish families in which sarcoglycanopathy was diagnosed.