Familial Myotubular Myopathy Occurred in a Sibling / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 425-429, 2001.
Artículo
en Coreano
| WPRIM
| ID: wpr-215591
ABSTRACT
Myotubular or centronuclear myopathy(MTM) is a rare congenital myopathy, which is characterized by predominance and atrophy of type 1 fibers and centrally located nuclei in muscle pathology. The clinical features and severity are quite variable. MTM is classified as three forms according to the inheritance pattern autosomal dominant, autosomal recessive and X-linked recessive. The authors present familial myotubular myopathy, suggestive of X linked, occurred in a sibling with intrafamilial clinical variability.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Atrofia
/
Miopatías Estructurales Congénitas
/
Hermanos
/
Patrón de Herencia
/
Enfermedades Musculares
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2001
Tipo del documento:
Artículo
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