Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 244-249

  Gottlieb, Emily ^a   Ciccone, Carla ^a   Darvish, Daniel ^b   Naiem Cohen, Shahrouz ^b,c   Dalakas, Marinos C ^d   Savelkoul, Paul J ^a   Krasnewich, Donna M ^a   Gahl, William A ^a,e   Huizing, Marjan ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HIBM Research Group   (United States)

^c CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Disease modifier; Dystroglycan; Hereditary inclusion body myopathy; Muscular dystrophy; Sialic acid; Single nucleotide polymorphism

Indexed keywords

AMINO ACID; DYSTROGLYCAN; DYSTROPHIN ASSOCIATED GLYCOPROTEIN 1; GENOMIC DNA; GLYCOPROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; GENE; GLYCOSYLATION; HEREDITARY INCLUSION BODY MYOPATHY; HUMAN; IRAN; JEW; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGE OF ONSET; BASE SEQUENCE; DNA PRIMERS; DYSTROGLYCANS; HUMANS; MIDDLE AGED; MYOSITIS, INCLUSION BODY; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX;

EID: 26244448544     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.003     Document Type: Article

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