Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Brain

Volumn 135, Issue 11, 2012, Pages 3392-3403

  Pitceathly, Robert D S ^a   Smith, Conrad ^b   Fratter, Carl ^b   Alston, Charlotte L ^c   He, Langping ^c   Craig, Kate ^c   Blakely, Emma L ^c   Evans, Julie C ^b   Taylor, John ^b   Shabbir, Zarfishan ^c   Deschauer, Marcus ^d   Pohl, Ute ^e   Roberts, Mark E ^f   Jackson, Matthew C ^g   Halfpenny, Christopher A ^h   Turnpenny, Peter D ⁱ   Lunt, Peter W ^j   Hanna, Michael G ^a   Schaefer, Andrew M ^c   McFarland, Robert ^c   Horvath, Rita ^c,k   Chinnery, Patrick F ^c,k   Turnbull, Douglass M ^c   Poulton, Joanna ^l   Taylor, Robert W ^c   Gorman, Gráinne S ^c   more..

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^e QUEEN S HOSPITAL   (United Kingdom)

^f SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^g WYCOMBE HOSPITAL   (United Kingdom)

^h QUEEN ALEXANDRA HOSPITAL   (United Kingdom)

ⁱ ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^j GLOUCESTERSHIRE ROYAL HOSPITAL   (United Kingdom)

^k NEWCASTLE UNIVERSITY   (United Kingdom)

^l UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

mitochondrial DNA; mtDNA depletion; mtDNA maintenance; multiple mitochondrial DNA deletions; RRM2B

Indexed keywords

CYTOCHROME C OXIDASE; PROTEIN P53; RIBONUCLEOTIDE REDUCTASE; RRM2B PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BULBAR PARALYSIS; CLINICAL ARTICLE; COHORT ANALYSIS; CYTOCHROME C OXIDASE DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FATIGUE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; MULTICENTER STUDY; MUSCLE BIOPSY; MYOPATHY; NEUROLOGIC DISEASE; NEUROLOGICAL COMPLICATION; ONSET AGE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SYSTEMATIC REVIEW (TOPIC);

EID: 84870175102     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws231     Document Type: Article

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