The most common mutation in FKRP causing limb girdle muscular dystrophy type 21 (LGMD2I) may have occurred only once and is present in Hutterites and other populations

Human Mutation

Volumn 25, Issue 1, 2005, Pages 38-44

  Frosk, Patrick ^a   Greenberg, Cheryl R ^a   Tennese, Alysa A P ^a   Lamont, Ryan ^a   Nylen, Edward ^a   Hirst, Cheryl ^a   Frappier, Danielle ^c   Roslin, Nicole M ^c   Zaik, Michaela ^e   Bushby, Kate ^d   Straub, Volker ^e   Zatz, Mayana ^f   De Paula, Flavia ^f   Morgan, Kenneth ^b,c   Fujiwara, T Mary ^b,c   Wrogemann, Klaus ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

FKRP; Founder effect; Hutterites; LGMD; Limb girdle muscular dystrophy; Linkage disequilibrium; Linkage mapping; TRIM32

Indexed keywords

CREATINE; FUKUTIN;

ARTICLE; CHROMOSOME 9; CHROMOSOME NOR; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; FUKUTIN RELATED PROTEIN GENE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENERAL ANESTHESIA; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEART DISEASE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; GENOTYPE; HUMANS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NORTH AMERICA; PHENOTYPE; PROTEINS;

EID: 19944426640     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20110     Document Type: Article

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