COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood

JAMA Neurology

Volumn 70, Issue 12, 2013, Pages 1556-1561

  Pitceathly, Robert D S ^a   Taanman, Jan Willem ^b   Rahman, Shamima ^a,b   Meunier, Brigitte ^c   Sadowski, Michael ^d   Cirak, Sebahattin ^e   Hargreaves, Iain ^f   Land, John M ^f   Nanji, Tina ^f   Polke, James M ^f   Woodward, Cathy E ^f   Sweeney, Mary G ^f   Solanki, Shyam ^b   Foley, A Reghan ^e   Hurles, Matthew E ^g   Stalker, Jim ^g   Blake, Julian ^a,h   Holton, Janice L ^a,b   Phadke, Rahul ^b,e   Muntoni, Francesco ^e   Reilly, Mary M ^a,b   Hanna, Michael G ^a,b   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CNRS   (France)

^d NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

^g WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^h NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; HEME; PROTEIN FARNESYLTRANSFERASE;

ADULT; ADULTHOOD; ARTICLE; CASE REPORT; COMPLEX MULTISYSTEM MITOCHONDRIAL DISEASE; COX10 GENE; CYTOCHROME C OXIDASE DEFICIENCY; DEMYELINATING NEUROPATHY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HUMAN; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; KIDNEY TUBULE DISORDER; MYOPATHY; PATHOGENICITY; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; RETINA MACULOPATHY; SHORT STATURE;

EID: 84890400158     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.3242     Document Type: Article

References (14)

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