A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant
10.46518/kjnmd.2022.14.1.16
- Author:
Min Soo SUNG
1
;
Seung-Ah LEE
;
Byeong Joo CHOI
;
Young-Chul CHOI
;
Hyung Jun PARK
Author Information
1. Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- Publication Type:Case Report
- From:
Korean Journal of Neuromuscular Disorders
2022;14(1):16-19
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The whole exome sequencing identified a heterozygous variant (c.296A>C) in CAV3. It was previously reported as a likely pathogenic variant. It was also detected in the male’s mother and brother. However, his mother and brother had only hyperCKemia without muscle weakness. Our case showed phenotypic heterogeneity in a family, with the same variant in CAV3.
