Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  McDonald, Kristin K ^a   Stajich, Jeffrey ^a   Blach, Colette ^a   Ashley Koch, Allison E ^a,b   Hauser, Michael A ^a,b  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DESMIN;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; DESMIN GENE; EXOME; EXOME SEQUENCING; FILAMIN C GENE; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NONHUMAN; PEDIGREE ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD; CONTRACTILE PROTEINS; DESMIN; EXOME; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84869099372     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0048864     Document Type: Article

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