[Late centronuclear myopathy: autosomal dominant form].
We report a family with three generations 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 spasms may appear. The gene is expressed with differing intensity in each individual. Myopathic electromyographic alterations are only found in functionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers.
Cartier
L
L
Departamento de Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile (Campus Oriente), Hospital del Salvador, Santiago de Chile.
Hernández
J E
JE
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010243:Paralysis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype