A new locus for X-linked dominant charcot-marie-tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Human Molecular Genetics

Volumn 22, Issue 7, 2013, Pages 1404-1416

  Kennerson, Marina L ^a,b,c   Yiu, Eppie M ^d,e,f   Chuang, David T ^g   Kidambi, Aditi ^a   Tso, Shih Chia ^g   Ly, Carolyn ^a   Chaudhry, Rabia ^a,c   Drew, Alexander P ^a   Rance, Gary ^f   Delatycki, Martin B ^e,f   Züchner, Stephan ^h   Ryan, Monique M ^d,e,f   Nicholson, Garth A ^a,b,c  

^a ANZAC RESEARCH INSTITUTE   (Australia)

^b Department of Geriatric Medicine   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; PYRUVATE DEHYDROGENASE KINASE; PYRUVATE DEHYDROGENASE KINASE 3; PYRUVIC ACID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BINDING AFFINITY; BIOENERGY; BIOSYNTHESIS; CHROMOSOME ANALYSIS; CHROMOSOME XP; CITRIC ACID CYCLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISSOCIATION CONSTANT; ENZYME ACTIVITY; ENZYME BINDING; ENZYME LOCALIZATION; ENZYME PHOSPHORYLATION; ENZYME REGULATION; ENZYME STRUCTURE; EXOME; FEMALE; GAIN OF FUNCTION MUTATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GLYCOLYSIS; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; LIPOGENESIS; MALE; MEDIAN NERVE; MISSENSE MUTATION; NERVE DEGENERATION; PEDIGREE ANALYSIS; PERIPHERAL NEUROPATHY; PERONEUS NERVE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SURAL NERVE; TIBIAL NERVE; ULNAR NERVE; WILD TYPE; X CHROMOSOME; X LINKED DOMINANT CHARCOT MARIE TOOTH DISEASE;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC LOCI; HETEROZYGOTE; HUMANS; ISOENZYMES; LOD SCORE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEIN BINDING; PROTEIN SUBUNITS; PROTEIN-SERINE-THREONINE KINASES; YOUNG ADULT;

EID: 84875267467     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds557     Document Type: Article

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