A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent
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DOI: 10.1177/22143602241301658
Abstract: CAPN3 encodes a calcium-activated skeletal muscle-specific protease. Pathogenic variants in CAPN3 are associated with autosomal recessive and dominant limb-girdle muscular dystrophy. We report on three children and one adult from four unrelated Iraqi Jewish families,… read more here.
Keywords: capn3 variant; iraqi jewish; rare homozygous; homozygous capn3 ... See more keywords