Neurologia i Neurochirurgia Polska
[Sarcoglycanopathies, a particular limb-girdle muscular dystrophy type (phenotype in three Polish families): initial report].
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Abstracto
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.