Miopatía centro nuclear tardía: forma autosómica dominante / Later centronuclear myopathy: autosomal dominant form
Rev. méd. Chile
;
124(2): 209-16, feb. 1996. ilus
Artículo
en Español
| LILACS
| ID: lil-173323
ABSTRACT
We report a family with three generation affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle sparms may apprear. The gene is expressed with differing intensity in each individual. Myopathic electro myographic alterations are only found in fuctionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers
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Índice:
LILACS (Américas)
Asunto principal:
Blefaroptosis
/
Enfermedades Neuromusculares
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
1996
Tipo del documento:
Artículo
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