MFN2, a new gene responsible for mitochondrial DNA depletion
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چکیده
منابع مشابه
MFN2, a new gene responsible for mitochondrial DNA depletion.
1 AP-HP, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France 2 UPMC Univ Paris 06, Paris, France 3 CHU d’Angers, Département de Biochimie et Génétique, Angers, France 4 UMR CNRS 6214—INSERM 771, Angers, France 5 AP-HP, Hôpital Bicêtre, Laboratoire de Biochimie, Paris, France 6 AP-HP, Hôpital Armand Trousseau, Service de Chirurgie Orthopédique et du Neurohandicap, Paris, France 7 ...
متن کاملLETTER TO THE EDITOR MFN2, a new gene responsible for mitochondrial DNA depletion
1 AP-HP, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France 2 UPMC Univ Paris 06, Paris, France 3 CHU d’Angers, Département de Biochimie et Génétique, Angers, France 4 UMR CNRS 6214—INSERM 771, Angers, France 5 AP-HP, Hôpital Bicêtre, Laboratoire de Biochimie, Paris, France 6 AP-HP, Hôpital Armand Trousseau, Service de Chirurgie Orthopédique et du Neurohandicap, Paris, France 7 ...
متن کاملMFN2 mutations cause compensatory mitochondrial DNA proliferation
1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK 3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany 4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany ...
متن کاملMitochondrial DNA Depletion
Keywords Disease name Definition/diagnostic criteria Differential diagnosis Etiology Clinical description Frequency Diagnostic methods Genetic counselling Prenatal diagnosis Management Unresolved questions References Abstract The mtDNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues...
متن کاملNavajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical...
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ژورنال
عنوان ژورنال: Brain
سال: 2012
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/aws111