Early-onset myopathy with tubular aggregates.

We report a 14-year-old girl with early onset of slowly progressive muscular weakness and atrophy. There was no family history of neuromuscular disease. A persistent increase of serum creatine kinase was found. Muscle biopsy specimens showed type 1 fiber predominance and tubular aggregates in almost every fiber. The clinical findings and pathology suggest that the disease represents one variant in a group of rare myopathies with different patterns of inheritance, characterized by slowly progressive muscle weakness and tubular aggregates.