Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Neuromuscular Disorders

Volumn 14, Issue 8-9, 2004, Pages 461-470

  Wallgren Pettersson, Carina ^a   Pelin, Katarina ^a   Nowak, Kristen J ^b,c   Muntoni, Francesco ^d   Romero, Norma B ^e   Goebel, Hans H ^f   North, Kathryn N ^g   Beggs, Alan H ^h   Laing, Nigel G ^b,c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^g University of Sydney   (Australia)

^h BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Mosaicism; Mutation; Nemaline (rod) myopathy

Indexed keywords

ALPHA ACTIN; MUSCLE PROTEIN; NEBULIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOSAICISM; NEMALINE MYOPATHY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKELETAL MUSCLE;

ACTINS; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; PHENOTYPE;

EID: 4344649461     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.03.006     Document Type: Article

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