一名患有复合杂合致病性变异和线粒体DNA多重缺失患者的慢性进行性眼外肌麻痹和线粒体肌病
CPEO and Mitochondrial Myopathy in a Patient with Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
作者信息
Montano V, Simoncini C, Calì Cassi L, Legati A, Siciliano G, Mancuso M
机构信息
Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Department of Hand Surgery and Reconstructive Microsurgery, University of Pisa, Pisa, Italy.
出版信息
Case Rep Neurol Med. 2019 Mar 6;2019:5918632. doi: 10.1155/2019/5918632. eCollection 2019.
The classic features of deoxyguanosine kinase () deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onset mitochondrial myopathy and mitochondrial DNA multiple deletions in skeletal muscle. Here we report the case of a 42-year-old Italian woman presenting with a chronic progressive external ophthalmoplegia and myopathy with mtDNA multiple deletions and the compound heterozygous c.462T>A (p.Asn154Lys) and c.707+2T>G pathogenic variants in .
脱氧鸟苷激酶（）缺乏症的典型特征为婴儿期发病的肝衰竭伴眼球震颤和肌张力减退；对受影响组织进行的线粒体DNA研究显示线粒体DNA耗竭。后来发现，同一基因的突变可能表现为成人期发病的线粒体肌病以及骨骼肌中线粒体DNA多处缺失。在此，我们报告一例42岁意大利女性病例，该患者表现为慢性进行性眼外肌麻痹和肌病，伴有线粒体DNA多处缺失，且在中存在复合杂合c.462T>A（p.Asn154Lys）和c.707+2T>G致病变体。
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