title: Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
abstract: We report a 2-year-old boy who presented with marked hypotonia and was dependent on artificial ventilation since birth. He was diagnosed with nemaline (actin) myopathy, based on the cytoplasmic accumulation of thin filament aggregates and marked myofibrillar dysgenesis. Intranuclear rods and dispersed tiny nemaline bodies were also observed. The patient was shown to be heterozygous for a de novo mutation, c.430C>T (p.Leu144Phe), in the alpha-actin (ACTA1) gene. He also showed orbital osteosclerosis, longitudinal striations of the iliac bones, hepatomegaly, undescended testis, a unilateral vesico-ureteric stenosis, severe failure to thrive, and dilatation of the lateral cerebral ventricles. Besides the severe muscle involvement, these clinical findings further broaden the clinical spectrum of actinopathy phenotypes.
authors: Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.
authors: Asako
authors: A
authors: Arai
authors: Satomi
authors: S
authors: Mitsuhashi
authors: Yoshiaki
authors: Y
authors: Saito
authors: Hirofumi
authors: H
authors: Komaki
authors: Hiroshi
authors: H
authors: Sakuma
authors: Eiji
authors: E
authors: Nakagawa
authors: Kenji
authors: K
authors: Sugai
authors: Masayuki
authors: M
authors: Sasaki
authors: Stephen P
authors: SP
authors: Robertson
authors: Gen
authors: G
authors: Nishimura
authors: Toshiyuki
authors: T
authors: Yamamoto
authors: Ikuya
authors: I
authors: Nonaka
authors: Ichizo
authors: I
authors: Nishino
mesh_terms: D000199:Actins / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003456:Cryptorchidism / Q000235:genetics; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D020547:Lateral Ventricles / Q000473:pathology; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D014564:Urogenital Abnormalities / Q000235:genetics
chemical_list: D000199:Actins