MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions

Archives of Neurology

Volumn 69, Issue 12, 2012, Pages 1648-1651

  Garone, Caterina ^a,e   Rubio, Juan Carlos ^a,f   Calvo, Sarah E ^b,c,d   Naini, Ali ^a   Tanji, Kurenai ^a   DiMauro, Salvatore ^a   Mootha, Vamsi K ^b,c,d   Hirano, Michio ^a  

^a NewYork Presbyterian Hospital   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d HARVARD UNIVERSITY   (United States)

^e UNIVERSITY OF TURIN   (Italy)

^f HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; MITOCHONDRIAL DNA;

ABNORMAL LABORATORY RESULT; ADULT ONSET MULTISYSTEMIC DISEASE; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRADYKINESIA; CASE REPORT; CLINICAL FEATURE; CONSTIPATION; CREATINE KINASE BLOOD LEVEL; DEPRESSION; DIABETES MELLITUS; ECHOGRAPHY; FAMILY HISTORY; FATTY LIVER; GASTROINTESTINAL MOTILITY DISORDER; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HAND TREMOR; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MEDICAL HISTORY; MPV17 GENE; MUSCLE BIOPSY; MYOPATHY; OPHTHALMOPLEGIA; OUTCOME ASSESSMENT; PARESTHESIA; PARKINSONISM; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PTOSIS;

EID: 84871184173     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2012.405     Document Type: Article

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