[Late centronuclear myopathy: autosomal dominant form].

Abstract excerpt

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....

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