O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
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DOI: 10.1111/nan.12846
Abstract: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weakness… read more here.
Keywords: dysf variant; dominantly inherited; dysf; large family ... See more keywords