MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 587-591

  Blakely, Emma L ^a   Butterworth, Anna ^a   Hadden, Robert D M ^b   Bodi, Istvan ^b   He, Langping ^a   McFarland, Robert ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

COX deficient fibres; Mitochondrial DNA; MtDNA maintenance; Multiple mtDNA deletions; Neuropathy

Indexed keywords

CYTOCHROME C OXIDASE; MEMBRANE PROTEIN; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PROTEIN MPV17; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN MITOCHONDRION; CASE REPORT; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; DNA REPAIR; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; LIVER MITOCHONDRION; MALE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA REPLICATION; MOLECULAR CLONING; MPV17 GENE; MUSCLE MITOCHONDRION; MUTATIONAL ANALYSIS; NEUROPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKELETAL MUSCLE;

ANIMALS; CEREBRAL CORTEX; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENE DELETION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTATION; POLYNEUROPATHIES; YOUNG ADULT;

EID: 84862204200     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.03.006     Document Type: Article

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