Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle α-actin gene

Journal of Child Neurology

Volumn 20, Issue 3, 2005, Pages 236-239

  Goez, Helly ^a   Sira, Liat Ben ^b   Jossiphov, Joseph ^b   Borochowitz, Zvi ^c   Durling, Hayley ^d   Laing, Nigel G ^d   Nevo, Yoram ^b  

^a Rakati Child Development Center   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c BNAI ZION MEDICAL CENTER   (Israel)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; DNA; LEUCINE; MUSCLE PROTEIN; SERINE;

ANAMNESIS; ARM MUSCLE; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CISTERNA MAGNA; CLINICAL FEATURE; CODON; DNA DETERMINATION; DOPPLER ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; FACE MUSCLE; FOLLOW UP; GENE MUTATION; HUMAN; INTELLIGENCE TEST; KYPHOSIS; LABORATORY TEST; LATERAL BRAIN VENTRICLE; LEARNING DISORDER; MALE; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PEDIATRIC HOSPITAL; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SHOULDER GIRDLE;

ACTINS; ARTHROGRYPOSIS; CHILD; CISTERNA MAGNA; HUMANS; INTELLIGENCE; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION, MISSENSE;

EID: 17644427365     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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