title: Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.
abstract: A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.
authors.affiliation: Department of Pediatrics, Jichi Medical School, Minamikawachi, Tochigi, Japan. kiyotaka@jichi.ac.jp
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Suwa
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
authors.forename: Mariko Y
authors.initials: MY
authors.lastname: Momoi
authors.forename: Minako
authors.initials: M
authors.lastname: Nakamura
authors.forename: Kunimasa
authors.initials: K
authors.lastname: Arima
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000473:pathology* / Q000648:ultrastructure