title: [Congenital neuromuscular disease with uniform type 1 fibers : a case report].
abstract: A 3-year-old boy was seen because of delayed developmental milestones, waddling gait, nonprogressive proximal muscle weakness and hyporeflexia. Serum creatine kinase levels were normal and EMG was non-diagnostic. Muscle biopsy revealed complete absence of type 2 A and 2 B fibers in addition to a moderate variation in fiber size. Diagnostic findings for congenital nonprogressive myopathies were not present such as nemaline bodies, cores, targetoid structure, central nuclei or selective type 1 fiber atrophy. This was the first case of a distinct form of non-progressive congenital myopathy, "congenital neuromuscular disease (myopathy) with uniform type 1 fibers", accompanied with mental retardation in Japan.
authors.affiliation: Division of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo.
authors.forename: A
authors.initials: A
authors.lastname: Araki
authors.forename: T
authors.initials: T
authors.lastname: Kurokawa
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009412:Nerve Fibers / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000150:complications / Q000151:congenital* / Q000473:pathology