Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages 808-816

  Larsen, Mirjam ^a   Rost, Simone ^a   El Hajj, Nady ^a   Ferbert, Andreas ^b   Deschauer, Marcus ^c   Walter, Maggie C ^d   Schoser, Benedikt ^d   Tacik, Pawel ^e   Kress, Wolfram ^a   Müller, Clemens R ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b KLINIKUM KASSEL   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN SMCHD1; UNCLASSIFIED DRUG; NONHISTONE PROTEIN; SMCHD1 PROTEIN, HUMAN; STOP CODON;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA METHYLATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 1; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 2; FEMALE; GENE DOSAGE; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; YOUNG ADULT; CHILD; GENETICS; MODIFIER GENE; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; TANDEM REPEAT;

ADULT; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON, NONSENSE; DNA METHYLATION; FEMALE; GENES, MODIFIER; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION, MISSENSE; PHENOTYPE; TANDEM REPEAT SEQUENCES;

EID: 84929270500     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.191     Document Type: Article

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