Mitochondrial ND5 mutations mimicking brainstem tectal glioma

Neurology

Volumn 75, Issue 1, 2010, Pages 93-

  Rio, M ^a   Lebre, A S ^a   De Lonlay, P ^a   Valayannopoulos, V ^a   Desguerre, I ^a   Dufier, J L ^a   Grevent D ^a   Zilbovicius, M ^a   Treguier C ^a   Brunelle, F ^a   De Barace C ^a   Kaplan, J ^a   Espinase Berrod, M A ^a   Sainte Rose, C ^a   Puget, S ^a   Rotig, A ^a   Munnich, A ^a   Boddaert, N ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MUSCLE ENZYME;

ARTICLE; CEREBROSPINAL FLUID ANALYSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GLIOMA; HUMAN; MENTAL DEFICIENCY; MENTAL DEVELOPMENT; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

EID: 77954636465     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181e6214a     Document Type: Article

References (2)

1. Shanske S, Coku J, Lu J, et al. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol 2008;65:368-372.
2. Lim BC, Park JD, Hwang H, et al. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. J Child Neurol 2009;24:828-832.