A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a <i>de novo</i> Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in <i>CAPN3</i>
-
- Komaki Shogo
- Department of Neurology, The University of Tokyo, Japan
-
- Kubota Akatsuki
- Department of Neurology, The University of Tokyo, Japan
-
- Katsuse Kazuto
- Department of Neurology, The University of Tokyo, Japan Department of Behavioral Neurology and Cognitive Neuroscience, Tohoku University School of Medicine, Japan
-
- Kitamura Asuka
- Department of Neurology, The University of Tokyo, Japan
-
- Maeda Meiko
- Department of Neurology, The University of Tokyo, Japan
-
- Matsukawa Takashi
- Department of Neurology, The University of Tokyo, Japan
-
- Eura Nobuyuki
- Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan
-
- Saito Yoshihiko
- Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan
-
- Nishino Ichizo
- Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan
-
- Toda Tatsushi
- Department of Neurology, The University of Tokyo, Japan
抄録
<p>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. 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. </p>
収録刊行物
-
- Internal Medicine
-
Internal Medicine advpub (0), 2024
一般社団法人 日本内科学会