title: Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report.
abstract: A Japanese boy had marked generalized hypotonia and weakness and progressive respiratory failure since birth. Left biceps brachii muscle biopsy at 47 days of age showed marked variation in muscle fiber size, and nemaline and/or cytoplasmic bodies in approximately 10% of the muscle fibers. To our knowledge, the presence of nemaline and cytoplasmic bodies in the same muscle has not been previously reported. The severity of his respiratory failure and muscle weakness were thought to be related to muscle immaturity since there were many undifferentiated type 2C fibers.
authors.affiliation: Department of Pediatrics, Saitama Medical Center, Saitama Medical School, Kawagoe, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Itakura
authors.forename: Y
authors.initials: Y
authors.lastname: Ogawa
authors.forename: N
authors.initials: N
authors.lastname: Murakami
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D001706:Biopsy; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D004200:Diseases in Twins; D006801:Humans; D007223:Infant; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000473:pathology* / Q000503:physiopathology