No muscle involvement in myoclonus-dystonia caused by ɛ-sarcoglycan gene mutations

Mutations in the ɛ-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; -, β-, -, and δ can cause autosomal recessive inherited limb girdle muscular dystrophies. and -sarcoglycans are very homologous and may substitute for one-another in different tissues. We therefore investigated whether mutations in SGCE also cause abnormalities of skeletal and myocardial muscle. Six patients with clinically and genetically verified M-D and no signs of limb-girdle muscular dystrophy were included. Skeletal muscle biopsies were obtained from all patients, and endomyocardial muscle biopsy from one of the patients. Morphological and immunohistological investigations were performed and compared with controls. Histological and immunohistological investigations of muscle and clinical assessment of muscle strength and mass showed no difference between M-D patients and controls. Our findings indicate that patients with M-D have no signs or symptoms of muscle disease. This suggests a different role of the sarcoglycan complex ɛβδ versus βδ complex in humans, as earlier suggested in rodents