Sporadic Distal Myopathy with Early Adult Onset: Study of Muscle Biopsies and Muscle Cell Cultures

摘要

A 28-year-old man with negative family history for neuromuscular diseases showed a distal myopathy. Creatine kinase was slightly increased. Two muscle biopsies were performed. The first showed myopathic features, rimmed vacuoles in a limited area and increase of free glycogen; the second showed only nonspecific pathological findings, demonstrating the patchy nature of vacuolar alterations. Biochemical investigation of the glycogenolytic and glycolytic pathways in muscle homogenates ruled out enzyme deficiencies. Muscle cell cultures developed normally.