A Familial Nemaline Myopathy.
- Author:
Tae Yong HONG
1
;
Jae Hyun PARK
;
Hong Dong KIM
;
Hee Tae KANG
;
Hye Je CHO
;
Il Nam SUNWOO
;
Tae Seung KIM
Author Information
1. Department of Neurology, College of Medicine, Inje University, Korea.
- Publication Type:Case Report
- MeSH:
Biopsy;
Child;
Congenital Abnormalities;
Extremities;
Family Characteristics;
Humans;
Male;
Mothers;
Muscle Hypotonia;
Muscle Weakness;
Myopathies, Nemaline*
- From:Journal of the Korean Neurological Association
1993;11(4):607-613
- CountryRepublic of Korea
- Language:Korean
-
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.
