Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

Human Genetics

Volumn 135, Issue 1, 2016, Pages 21-30

  Shamseldin, Hanan E ^a   Smith, Laura L ^b   Kentab, Amal ^c   Alkhalidi, Hisham ^c   Summers, Brady ^d   Alsedairy, Haifa ^a   Xiong, Yong ^d   Gupta, Vandana A ^b   Alkuraya, Fowzan S ^a,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d YALE UNIVERSITY   (United States)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; MESSENGER RNA; PROTEIN; SLC25A42 PROTEIN; UNCLASSIFIED DRUG; SLC25A4 PROTEIN, HUMAN;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CONTROLLED STUDY; DYSARTHRIA; EMBRYO; EXOME; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; HUMAN; IMMUNOFLUORESCENCE; LACTIC ACIDOSIS; MALE; MEDICAL HISTORY; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MYOPATHY; MUSCLE MASS; MUSCLE WEAKNESS; NONHUMAN; OPTIC NERVE ATROPHY; PHENOTYPE; PHYSICAL ACTIVITY; PRIORITY JOURNAL; SAUDI; WESTERN BLOTTING; ZEBRA FISH; ANIMAL; FEMALE; GENETICS; MUTATION; PEDIGREE;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; ADOLESCENT; ANIMALS; FEMALE; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MODELS, ANIMAL; MUTATION; PEDIGREE; RNA, MESSENGER; ZEBRAFISH;

EID: 84952719206     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1608-8     Document Type: Article

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