Related Experiment Videos
["Multicore" myopathy: report of 5 cases]
1Grup d'Investigació Muscular, Servei de Medicina Interna, Hospital Clínic i Provincial, Universitat de Barcelona.
Summary
Multicore myopathy cases, including a family with malignant hyperthermia, suggest autosomal dominant inheritance. Long-term follow-up shows no progressive disabling myopathy in these patients.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Multicore myopathy is a rare congenital neuromuscular disorder.
- Genetic factors are implicated in its pathogenesis.
- Clinical presentation can vary significantly.