Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1

Neurology

Volumn 71, Issue 22, 2008, Pages 1764-1769

  Stamm, D S ^a,b   Powell, C M ^b   Stajich, J M ^a   Zismann, V L ^d   Stephan, D A ^d   Chesnut, B ^a   Aylsworth, A S ^b   Kahler, S G ^c   Deak, K L ^a   Gilbert, J R ^e   Speer, M C ^f  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^d TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMERICAN INDIAN; ARTICLE; CHROMOSOME 12Q; CLINICAL ARTICLE; FAMILY; GENE LOCUS; GENE MAPPING; GENETIC IDENTIFICATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; MALIGNANT HYPERTHERMIA; MICROSATELLITE MARKER; MYOPATHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; CHROMOSOME 12; CONSANGUINITY; CONTRACTURE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; MALE; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; UNITED STATES;

PRIMER DNA;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 12; CONSANGUINITY; CONTRACTURE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HOMOZYGOTE; HUMANS; INDIANS, NORTH AMERICAN; LOSS OF HETEROZYGOSITY; MALE; MALIGNANT HYPERTHERMIA; MUSCLE WEAKNESS; MYOPATHIES, STRUCTURAL, CONGENITAL; NORTH CAROLINA; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 58149250603     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000325060.16532.40     Document Type: Article

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