Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.,Neurology Genetics

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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Neurology Genetics ( IF 3.0 ) Pub Date : 2020-04-01 , DOI: 10.1212/nxg.0000000000000413
Olivia V Poole ₁ , Alejandro Horga ₁ , Steven A Hardy ₁ , Enrico Bugiardini ₁ , Cathy E Woodward ₁ , Iain P Hargreaves ₁ , Ashirwad Merve ₁ , Rosaline Quinlivan ₁ , Robert W Taylor ₁ , Michael G Hanna ₁ , Robert D S Pitceathly ₁

Affiliation

Most pathogenic mitochondrial DNA (mtDNA) variants occur in the 22 mtDNA-encoded tRNA (mt-tRNA) genes. However, despite more than 270 reported mt-tRNA gene mutations, only 5 reside within mt-tRNA^Gly (MT-TG).¹ We report a rare MT-TG variant and evaluate this, in addition to all previously reported MT-TG variants, against the published criteria used to help determine the pathogenicity of the mt-tRNA variants.²

中文翻译：

由罕见的 m.10038G>A 线粒体 tRNAGly (MT-TG) 变体引起的多系统线粒体疾病。

大多数致病性线粒体 DNA (mtDNA) 变异发生在 22 个 mtDNA 编码的 tRNA (mt-tRNA) 基因中。然而，尽管已报道超过 270 个 mt-tRNA 基因突变，但只有 5 个位于 mt-tRNA ^Gly ( MT-TG ) 内。 ¹我们报告了一种罕见的MT-TG变体，并根据用于帮助确定 mt-tRNA 变体致病性的已发布标准，除了之前报告的所有MT-TG变体之外，还对其进行了评估。 ²

更新日期：2020-04-01

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