Key result
A heterozygous variant (c.296A>C) in CAV3 resulted in phenotypic heterogeneity within a family, causing progressive proximal muscle weakness in the proband and only hyperCKemia in his mother and brother.
Case Report (n=3)
This case report highlights phenotypic heterogeneity within a family carrying the same pathogenic CAV3 variant, ranging from progressive muscle weakness to isolated hyperCKemia.
CAV3 testing may be considered in familial hyperCKemia; case report extends spectrum but leaves open validation in larger cohorts.
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.
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Sung et al. (2022) conducted a case report in CAV3 pathogenic variant (n=3). Heterozygous variant (c.296A>C) in CAV3 was evaluated on Phenotypic presentation. A heterozygous variant (c.296A>C) in CAV3 resulted in phenotypic heterogeneity within a family, causing progressive proximal muscle weakness in the proband and only hyperCKemia in his mother and brother.
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