Arch Neurol Chicago
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Arch Neurol Chicago · Aug 2007
Multicenter StudyPhenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency. ⋯ In addition to typical Miyoshi myopathy and limb-girdle muscular dystrophy type 2B, dysferlinopathies are a clinically heterogeneous group of disorders ranging from asymptomatism to severe functional disability.