A Familial Nemaline Myopathy

J Korean Neurol Assoc > Volume 11(4); 1993 > Article

Journal of the Korean Neurological Association 1993;11(4): 607-613.

가족성 Nemaline 근병증 한 례

홍태용, 박재현,김흥동,강희태,조혜제,선우일남,김태승

인제대학교 신경과, 소아과, 병리학. 연세대학교 신경과, 병리학.

A Familial Nemaline Myopathy

Tae-Yong Hong, M.D., Jae-Hyun Park, M.D., Hong-Dong Kim, M.D., Hee-Tae Kang, M.D., Hye-Je Cho, M.D., Il-Nam Sunwoo, M.D., Tae-Seung Kim, M.D.

Department of Neurology, Pediatrics and Pathology, College of Medicine Inje University, Department of Neurology and Pathology, College of Medicine Yonsei University

Abstract

Nemaline myopathy is a rare congenital m opathy, characterized by nonprogressive or slowely progressive muscle weakness associated with rod-like structures in muscle fibers and characteristic dysmorphic features. We report the first farnilial nemaline myopathy in two generations of the same family, confirmed by muscle biospy in an 11-year-old boy and his mother. The patients had hypotonia and slowly progressive muscle weakness of the four limbs associated with characteristic facial dysmorphism and skeletal deformities. Light and electron microscopic study of a muscle biopsy showed numerous nemaline rods in both patients.