Why the study?
To identify the genetic defect causing a distal calf myopathy with cores.
Identifies RYR1 mutations as a cause of distal calf myopathy with cores.
May aid genetic diagnosis in similar myopathies; leaves open prevalence, mechanisms, and clinical utility pending validation.
OBJECTIVE: To identify the genetic defect causing a distal calf myopathy with cores. METHODS: Families with a genetically undetermined calf-predominant myopathy underwent detailed clinical evaluation, including EMG/nerve conduction studies, muscle biopsy, laboratory investigations, and muscle MRI. Next-generation sequencing and targeted Sanger sequencing were used to identify the causative genetic defect in each family. RESULTS: -mutated alleles. All patients showed a very slowly progressive myopathy without episodes of malignant hyperthermia or rhabdomyolysis. Muscle biopsy showed cores or core-like changes in all families. CONCLUSIONS: mutations, while affected persons in the third family carried 2 previously known mutations in the same dominant allele.
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Jokela et al. (2019) studied this question.
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