Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 632-639

  Ockeloen, C W ^a   Gilhuis, H J ^b   Pfundt, R ^a   Kamsteeg, E J ^a   Agrawal, P B ^c   Beggs, A H ^c   Dara Hama Amin, A ^d   Diekstra, A ^a   Knoers, N V A M ^e   Lammens, M ^a   van Alfen, N ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b REINIER DE GRAAF HOSPITAL   (Netherlands)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HAGA HOSPITAL   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

CFL2; Cofilin 2; Congenital myopathy; Myofibrillar myopathy; Nemaline myopathy

Indexed keywords

ADENINE; COFILIN 2; GUANINE; METHIONINE; VALINE;

ACTIN FILAMENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AXIAL GIRDLE WEAKNESS; CASE REPORT; CFL2 GENE; CHILD; CONGENITAL DISORDER; CONSANGUINITY; ETHNIC GROUP; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; HEREDITARY MUSCLE DISEASE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IRAQI KURDISH; LIMB GIRDLE WEAKNESS; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOPLASM; SIBLING;

ADENOSINE TRIPHOSPHATASES; CHILD; COFILIN 2; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; LONGITUDINAL STUDIES; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; YOUNG ADULT;

EID: 84862225749     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.03.008     Document Type: Article

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