A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

Abstract excerpt

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, who harbor the same homozygous variant in CAPN3, p.Gln123Lys. Patients shared recognizable features of toe-walking and elevated creatine...

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