A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant / 대한신경근육질환학회지
Korean Journal of Neuromuscular Disorders
;
(2): 16-19, 2022.
Article
in Korean
| WPRIM
| ID: wpr-938692
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:
Available
Index:
WPRIM (Western Pacific)
Language:
Korean
Journal:
Korean Journal of Neuromuscular Disorders
Year:
2022
Type:
Article
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