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.
Intern Med
; 2024 Mar 18.
Article
in En
| MEDLINE
| ID: mdl-38494715
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Intern Med
Journal subject:
MEDICINA INTERNA
Year:
2024
Document type:
Article
Affiliation country:
Japan