Massive and exclusive pontocerebellar damage in mitochondrial disease and nubpl mutations

Neurology

Volumn 79, Issue 4, 2012, Pages 391-

  Tenisch, Estelle Valerie ^a   Lebre, Anne Sophie ^a   Grévent, David ^a   de Lonlay, Pascale ^a   Rio, Marlene ^a   Zilbovicius, Monica ^a   Funalot, Benoît ^a   Desguerre, Isabelle ^a   Brunelle, Francis ^a   Rötig, Agnès ^a   Munnich, Arnold ^a   Boddaert, Nathalie ^a  

^a NONE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; NUBPL PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CEREBELLUM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HUMAN; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHY; PATHOLOGY; PONS; SCINTISCANNING;

CEREBELLUM; HUMANS; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; PONS; YOUNG ADULT;

EID: 84867853627     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182611232     Document Type: Note

References (2)

1. AS Lebre M Rio L Faivre d'Arcier A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency J Med Genet 48 2011 16 23
2. 1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency Mol Genet Metab 93 2008 85 88