A Familial Nemaline Myopathy
Journal of the Korean Neurological Association
;
: 607-613, 1993.
Article
in Korean
| WPRIM
| ID: wpr-89035
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Congenital Abnormalities
/
Biopsy
/
Family Characteristics
/
Myopathies, Nemaline
/
Muscle Weakness
/
Extremities
/
Mothers
/
Muscle Hypotonia
Limits:
Child
/
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
1993
Type:
Article
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