A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation.
Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families. Calpain-3 muscle western blots were performed in three unrelated individuals.
Probands reported variable weakness in their 40s-50s with myalgia, back pain or hyperlordosis. Pelvic girdle muscles were affected with adductor and hamstring sparing. CK was normal-1,800 U/L independent of weakness severity. Imaging demonstrated lumbar paraspinal muscle atrophy. EMG and muscle biopsies were normal to mildly myopathic. Muscle calpain-3 expression was reduced.
This study provides further evidence for AD calpainopathy associated with CAPN3 c.643_663del21. No pathogenic variants in other genes known to cause myopathy were detected. This article is protected by copyright. All rights reserved.
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