کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081012 | 1189363 | 2008 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers–Huttenlocher syndrome. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolγA, which cause additive, deleterious effects on mtDNA maintenance and integrity.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 18, Issue 6, June 2008, Pages 465–470
Journal: Neuromuscular Disorders - Volume 18, Issue 6, June 2008, Pages 465–470
نویسندگان
Giuliana Galassi, Eleonora Lamantea, Federica Invernizzi, Federica Tavani, Isabella Pisano, Ileana Ferrero, Luigi Palmieri, Massimo Zeviani,