67 research outputs found
Partial α-sarcoglycan deficiency with retention of the dystrophin- glycoprotein complex in a LGMD2D family
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
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