A Brazilian team analyzed the clinical presentation and RYR1 gene variants found by next-generation sequencing (NGS) of 27 individuals with central core myopathy, aged one to 52 years and from 19 unrelated families.
- Eleven patients from four families had an autosomal dominant form, three patients from two families had an autosomal recessive form, and 13 patients were sporadic cases.
- Genotypic analysis of 14 families showed that :
. the 11 patients with a dominant form and four sporadic cases had monoallelic variants,
. the three patients with a recessive form and four sporadic cases had biallelic variants.
- Clinically, only facial muscle involvement was significantly more frequent in carriers of biallelic variants (5/7) than in carriers of monoallelic variants (1/15).
The detection of more pathological RYR1 variants by NGS has direct implications for genetic counseling.