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| Korean Journal of Neuromuscular Disorders ; 14 : 1 - 4, July 2022 |
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| A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant |
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| Min Soo Sung, MD, Seung-Ah Lee, MD, Byeong Joo Choi, MD, Young-Chul Choi, MD, PhD, Hyung Jun Park, MD, PhD |
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| Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea |
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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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