Myotilin is mutated in limb girdle muscular dystrophy 1A

Human Molecular Genetics

Volumn 9, Issue 14, 2000, Pages 2141-2147

  Hauser, Michael A ^a   Horrigan, Stephen K ^b   Salmikangas, Paula ^c   Torian, Udana M ^a   Viles, Kristi D ^a   Dancel, Ria ^a   Tim, Richard W ^a   Taivainen, Anu ^c   Bartoloni, Luria ^b   Gilchrist, James M ^d   Stajich, Jeffrey M ^a   Gaskell, P Craig ^a   Gilbert, John R ^a   Vance, Jeffrey M ^a   Pericak Vance, Margaret A ^a   Carpen, Olli ^c   Westbrook, Carol A ^b   Speer, Marcy C ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

^d RHODE ISLAND HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ; CYTOSINE; ISOLEUCINE; MUSCLE PROTEIN; MYOTILIN; THREONINE; THYMINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL VACUOLE; CHROMOSOME 5Q; CONTROLLED STUDY; DYSARTHRIA; FAMILY STUDY; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE ATROPHY; NEMALINE MYOPATHY; NORTH AMERICA; NUCLEOTIDE SEQUENCE; ONSET AGE; PELVIC GIRDLE; PRIORITY JOURNAL; PROGENY; PROTEIN BINDING; SARCOMERE; SHOULDER GIRDLE;

EID: 0034284682     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.14.2141     Document Type: Article

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