• Internal medicine · Nov 2024

    Case Reports

    A Case of 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.

    • Shogo Komaki, Akatsuki Kubota, Kazuto Katsuse, Asuka Kitamura, Meiko Maeda, Takashi Matsukawa, Nobuyuki Eura, Yoshihiko Saito, Ichizo Nishino, and Tatsushi Toda.
    • Department of Neurology, the University of Tokyo, Japan.
    • Intern. Med. 2024 Nov 15; 63 (22): 308330863083-3086.

    AbstractCalpainopathy 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. A genetic analysis of her parents revealed the possibility that c.1333G>A was de novo. In this patient, the onset age was earlier than that of the reported autosomal dominant cases, suggesting the influence of the novel variant in the contralateral allele.

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