Actin-related myopathy without any missense mutation in the ACTA1 gene

Journal of Child Neurology

Volumn 19, Issue 2, 2004, Pages 149-153

  Goebel, Hans H ^a   Brockmann, Knut ^b   Bönnemann, Carsten G ^c   Warlo, Irene A P ^a   Hanefeld, Folker ^b   Labeit, Siegfried ^d   Durling, Hayley J ^e   Laing, Nigel G ^e  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ALPHA ACTIN; ALPHA CRYSTALLIN; BETA CRYSTALLIN; DESMIN; DNA; MONOCLONAL ANTIBODY;

ACTIN FILAMENT; ARTICLE; ASSISTED VENTILATION; BLOOD ANALYSIS; CASE REPORT; CHILDBIRTH; DNA DETERMINATION; ELECTRON MICROSCOPY; GENE MUTATION; GENETIC CODE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MICROSCOPY; MISSENSE MUTATION; MULTIGENE FAMILY; MUSCLE BIOPSY; MUSCLE CELL; MYOFILAMENT; MYOPATHY; NEMALINE MYOPATHY; PARENT; PERINATAL PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN AGGREGATION; QUADRICEPS FEMORIS MUSCLE; SARCOMERE; SARCOPLASM;

EID: 1842433696     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738040190021201     Document Type: Article

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