Korean J Neuromuscul Disord.
2022 Jun;14(1):16-19. 10.46518/kjnmd.2022.14.1.16.
A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant
- Affiliations
-
- 1Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- KMID: 2531573
- DOI: http://doi.org/10.46518/kjnmd.2022.14.1.16
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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A familial case of limb-girdle muscular dystrophy with CAV3 mutation
- A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report
- Re-evaluation of the LDLR Gene Variants of Uncertain Significance Using ClinGen Guideline
- A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
- Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
