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Updated: Aug 11, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Early-onset myopathy with tubular aggregates
M H Tulinius1, A Lundberg, A Oldfors
1Department of Pediatrics, Göteborg University, East Hospital, Sweden.
Abstract:
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.
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