Article
A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.
Internal medicine (Tokyo, Japan) - 15 Nov 2024
Komaki Shogo, Kubota Akatsuki, Katsuse Kazuto, Kitamura Asuka, Maeda Meiko, Matsukawa Takashi, Eura Nobuyuki, Saito Yoshihiko, Nishino Ichizo, Toda Tatsushi
Abstract excerpt
Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for c.1333G>A and a novel variant of c.1331C>T in CAPN3, leading to a diagnosis of calpainopathy....
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