Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

European Journal of Human Genetics

Volumn 19, Issue 10, 2011, Pages 1038-1044

  Sarkozy, Anna ^a   Windpassinger, Christian ^b   Hudson, Judith ^a   Dougan, Charlotte F ^c   Lecky, Bryan ^c   Hilton Jones, David ^d   Eagle, Michelle ^a   Charlton, Richard ^e   Barresi, Rita ^e   Lochmüller, Hanns ^a   Bushby, Kate ^a   Straub, Volker ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c WALTON CENTRE FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^e NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

British; FHL1; founder mutation; myopathy

Indexed keywords

PROTEIN FOUR AND A HALF LIM DOMAIN 1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; FEMALE; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REDUCING BODY MYOPATHY; UNITED KINGDOM; X LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY AND GENERALIZED HYPERTROPHY;

ADULT; BIOPSY; EXONS; FAMILY; FEMALE; FOUNDER EFFECT; GENETIC DISEASES, X-LINKED; GREAT BRITAIN; HAPLOTYPES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 80053051031     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.84     Document Type: Article

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