A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant / 대한신경근육질환학회지
Min-Soo SUNG; Seung-Ah LEE; Byeong-Joo CHOI; Young-Chul CHOI; Hyung-Jun PARK.
Korean Journal of Neuromuscular Disorders
; (2): 16-19, 2022.
Artículo
en Ko
| WPRIM | ID: wpr-938692
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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