Diagnosis by sequencing: Correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 999-1003

  Leidenroth, Andreas ^a   Sorte, Hanne Sørmo ^b   Gilfillan, Gregor ^b   Ehrlich, Melanie ^c   Lyle, Robert ^b   Hewitt, Jane E ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

exome sequencing; facioscapulohumeral muscular dystrophy; limb girdle muscular dystrophy; methylation

Indexed keywords

CALPAIN 3; DIGOXIGENIN;

ALLELE; ARTICLE; CHROMOSOME 4; D4Z4 GENE; DIAGNOSTIC ERROR; DNA METHYLATION; EXOME; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

ALLELES; BASE SEQUENCE; BIOLOGICAL ASSAY; CALPAIN; CHROMOSOMES, HUMAN, PAIR 4; DIAGNOSIS, DIFFERENTIAL; DNA METHYLATION; EPIGENESIS, GENETIC; EXOME; FEMALE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84865255518     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.42     Document Type: Article

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