Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: What we learned from 130 cases

Journal of Inherited Metabolic Disease

Volumn 35, Issue 5, 2012, Pages 737-747

  Koene, S ^a   Rodenburg, R J ^a   Van Der Knaap, M S ^b   Willemsen, M A A P ^a   Sperl, W ^c   Laugel, V ^d   Ostergaard, E ^e   Tarnopolsky, M ^f   Martin, M A ^g   Nesbitt, V ^h   Fletcher, J ⁱ   Edvardson, S ^j   Procaccio, V ^k   Slama, A ^l   Van Den Heuvel, L P W J ^a   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f MCMASTER UNIVERSITY   (Canada)

^g CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^j HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^k UNIVERSITÉ D'ANGERS   (France)

^l APHP CHU de Bicêtre   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

BRAIN STEM INJURY; CARDIOMYOPATHY; CHILD DEATH; CLINICAL FEATURE; COMPLEX I DEFICIENCY; DISEASE COURSE; DYSTONIA; FAILURE TO THRIVE; FEEDING DISORDER; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LACTIC ACIDEMIA; LEIGH DISEASE; LEUKOENCEPHALOPATHY; MITOCHONDRIAL GENOME; MUSCLE HYPOTONIA; NUCLEAR GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; ONSET AGE; OPTIC NERVE ATROPHY; ORGAN INJURY; PROGNOSIS; PSYCHOMOTOR RETARDATION; PYRAMIDAL SIGN; RESPIRATORY TRACT DISEASE; REVIEW; SURVIVAL; SYMPTOM;

CELL NUCLEUS; ELECTRON TRANSPORT COMPLEX I; GENETIC ASSOCIATION STUDIES; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION;

EID: 84866742942     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9492-z     Document Type: Review

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