Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

Neuromuscular Disorders

Volumn 21, Issue 7, 2011, Pages 489-493

  Saito, Yoshiaki ^a   Komaki, Hirofumi ^a   Hattori, Ayako ^a   Takeuchi, Fumi ^a   Sasaki, Masayuki ^a   Kawabata, Ken ^b   Mitsuhashi, Satomi ^c   Tominaga, Kayo ^c   Hayashi, Yukiko K ^c   Nowak, Kristen J ^d   Laing, Nigel G ^d   Nonaka, Ikuya ^c   Nishino, Ichizo ^c  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Actin; Brain; Intellectual disturbance; Nemaline myopathy

Indexed keywords

ACTA1 GENE; ARTICLE; ARTIFICIAL VENTILATION; BONE DYSPLASIA; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; COMPREHENSION; CONGENITAL DISORDER; CRYPTORCHISM; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEEDING DISORDER; GENE; GENE MUTATION; GENERALIZED EDEMA; HEPATOMEGALY; HEREDITARY MUSCLE DISEASE; HUMAN; HUMAN TISSUE; INFANT; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; NEMALINE MYOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; TRACHEOTOMY; TUBE FEEDING; URINARY TRACT OBSTRUCTION;

ACTINS; CHILD, PRESCHOOL; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE;

EID: 79960087128     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.03.004     Document Type: Article

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