MFN2 mutations cause severe phenotypes in most patients with CMT2A
نویسندگان
چکیده
منابع مشابه
MFN2 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 ...
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Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration. In addition to homooligomeric complexes, Mfn2 also associates with Mfn1, but the functional significance of such heterooligomeric complexes is unknown. Also unknown is why Mfn2 mutations in CMT2A lead...
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ژورنال
عنوان ژورنال: Neurology
سال: 2011
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31821a441e