کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3080848 1189356 2010 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mitochondrial DNA depletion syndromes – Many genes, common mechanisms
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Mitochondrial DNA depletion syndromes – Many genes, common mechanisms
چکیده انگلیسی

Mitochondrial DNA depletion syndrome has become an important cause of inherited metabolic disorders, especially in children, but also in adults. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Nine genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation. We review here the current knowledge on the clinical and molecular genetic features of mitochondrial DNA depletion syndrome.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 20, Issue 7, July 2010, Pages 429–437
نویسندگان
, ,