A wide phenotypic spectrum of desminopathy associated with a novel desmin mutation S12F

Daojun Hong, Xinghua Luan, Wei Zhang and Yun Yuan Objective Desminopathy is a subtype of myofibrillar myopathy and caused by desmin gene mutations. We report the clinical and pathological changes in a Chinese family. Methods Six patients from a Chinese family with autosomal dominant desminopathy were described. The onset age was after 40 years old. The clinical manifestations were skeletal myopathy and dilated cardiomyopathy. CK level was normal or mildly elevated, and EMG was consistent with myopathy. Genetic and pathological test were performed in 2 brothers. Results Muscle biopsies identified muscular dystrophy with rimmed vacuoles in 2 cases, one with more amorphic material and one with more cytoplasmic bodies. Desmin, ubiquitin, actin, merosin, dystrophin, tau, and beta-amyliod42 were abnormally deposited in the muscle fibers. Ultrastructural examination revealed granulofilamentous materials in subsarcolemma area or between myofibrils. A novel desmin S12F mutation has been identified in all affected family individuals. Conclusion A novel desmin S12F mutation causes desminopathy. The pathological changes present different among individuals in the same family.北京大学第一医院神经内科袁云