Key result
Among 38 families with autosomal recessive limb-girdle muscular dystrophy, gamma sarcoglycan deficiency was the most severe phenotype and dysferlinopathy the mildest, with no cardiomyopathy observed.
Population
38 autosomal recessive limb-girdle muscular dystrophy families, age of onset 1.5 to 15 years, current ages 6…
Design
Cross-sectional
Authors
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Supports LGMD subtype prognostication; leaves open cardiomyopathy risk in larger longitudinal cohorts.
Cross-Sectional (n=38)
In a cross-sectional analysis of 38 LGMD2 families, various genetic subtypes were identified with differing severities, but none exhibited cardiomyopathy.
Pervin Dinçer (2000) conducted a cross-sectional in Autosomal recessive limb-girdle muscular dystrophy (LGMD2) (n=38). Genetic mutations (LGMD2A-F loci) was evaluated on Classification of families by genetic loci and protein studies. Among 38 families with autosomal recessive limb-girdle muscular dystrophy, gamma sarcoglycan deficiency was the most severe phenotype and dysferlinopathy the mildest, with no cardiomyopathy observed.
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