机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USAColumbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA
DiMauro, S
[1
]
Andreu, AL
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机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USAColumbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA
Andreu, AL
[1
]
Bonilla, E
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机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USAColumbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA
Bonilla, E
[1
]
机构:
[1] Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA
In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: 1. The pathophysiology of mtDNA related disorders; 2. The molecular base of nDNA mutations; 3. The coenzyme Q10 deficiency; 4. Defects of translocases; 5. Defects of mitochondrial protein importation, and 6. Defects of intergeomonic signalling.