title: Early-onset myopathy with tubular aggregates.
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.
authors.affiliation: Department of Pediatrics, Göteborg University, East Hospital, Sweden.
authors.forename: M H
authors.initials: MH
authors.lastname: Tulinius
authors.forename: A
authors.initials: A
authors.lastname: Lundberg
authors.forename: A
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D007527:Isoenzymes; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology*; D018908:Muscle Weakness / Q000201:enzymology / Q000453:epidemiology / Q000473:pathology*; D009133:Muscular Atrophy / Q000201:enzymology / Q000453:epidemiology / Q000473:pathology*; D012519:Sarcoplasmic Reticulum / Q000473:pathology*
chemical_list: D007527:Isoenzymes; D003402:Creatine Kinase