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KMID : 1035220220140010016
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Korean Journal of Neuromuscular Disorders
2022 Volume.14 No. 1 p.16 ~ p.19
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A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant
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Sung Min-Soo
Lee Seung-Ah
Choi Byeong-Joo
Choi Young-Chul
Park Hyung-Jun
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Abstract
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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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KEYWORD
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Caveolin 3, Muscular dystrophies, limb-girdle, Whole exome sequencing
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