title: Sporadic adult-onset distal myopathy with rimmed vacuoles, 15-18 nm tubulofilaments and extensive rod formation.
abstract: Starting after the age of 35 years this German man had a slowly progressive distal myopathy greater in the legs than in the arms. First he realized gait difficulties with reduced ankle dorsiflexion. Serum creatine kinase activity was normal. Muscle biopsy studies showed myopathic changes, rimmed vacuoles and the presence of rods in 66% of the type 1 muscle fibers. Ultrastructural examination revealed cytoplasmatic aggregates of tubulofilaments measuring 15-18 nm in diameter, myeloid bodies and rod formation. The nosological situation of this distal myopathy with tubulofilamentous inclusions is discussed.
authors.affiliation: Department of Neurology, University Hospital, Bonn, Germany.
authors.forename: J P
authors.initials: JP
authors.lastname: Sieb
authors.forename: J
authors.initials: J
authors.lastname: VonOertzen
authors.forename: K
authors.initials: K
authors.lastname: Tolksdorf
authors.forename: P
authors.initials: P
authors.lastname: Dörfler
authors.forename: K
authors.initials: K
authors.lastname: Kappes-Horn
authors.forename: F
authors.initials: F
authors.lastname: Jerusalem
mesh_terms: D000328:Adult; D017668:Age of Onset; D018450:Disease Progression; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D008297:Male; D017696:Myopathies, Nemaline / Q000473:pathology*; D010507:Periodicity; D014617:Vacuoles / Q000473:pathology*