2009EFNS線粒體疾病的分子診斷指南
《2009EFNS線粒體疾病的分子診斷指南》內容簡介：
To collect data about planning, conditions and per-formance of molecular diagnosis of MIDs, a literaturesearch in various electronic databases, such as Coch-rane library, MEDLINE, OMIM, GENETEST orEmbase, was carried out and original papers, meta-**yses, review papers and guideline recommendationswere reviewed.
《2009EFNS線粒體疾病的分子診斷指南》內容預覽：
Mutations may be either present in all mtDNA copies（homoplasmy） or only part of the mtDNA copies（heteroplasmy, coexistence of wild-type and mutatedmtDNA within a mitochondrion, cell or tissue）。 Only ifmutated mtDNA copies accumulate above a criticalthreshold （threshold level）， which depends on age andtissue, a mutation is phenotypically expressed. This iswhy heteroplasmic mtDNA mutations behave as?recessive-like? traits. However, phenotypic expressionmay vary according to the intrinsic pathogenicity of amutation, its tissue distribution, the variable aerobicenergy-demand of di?erent tissues or organs and theindividual genetic background. Homoplasmic mtDNAmutations usually manifest as single-organ or evensingle cell-type-failure, like retinal ganglion cells inLeber?s hereditary optic neuropathy （LHON）， whichmay be due to primary or secondary LHON mutations.
mtDNA mutations may be either classified as large-scale rearrangements or as point mutations.mtDNA rearrangements Large-scale mtDNA rear-rangements comprise single partial mtDNA-deletionsand, more rarely, partial duplications, which both areheteroplasmic. Three main phenotypes are associatedwith single mtDNA deletions: Kearns-Sayre-syndrome（KSS）， sporadic progressive external ophthalmoplegia（PEO） and Pearson?s syndrome （Table 1）.
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