期刊
JOURNAL OF CLINICAL MEDICINE
卷 10, 期 6, 页码 -出版社
MDPI
DOI: 10.3390/jcm10061249
关键词
CPEO; leber; Leigh syndrome; MELAS; MERRF; mitochondrial myopathy; MNGIE; mtDNA; NARP; PEO
资金
- Telethon Grant [GUP09004]
- Telethon-MITOCON Grant [GSP16001]
- GENOMIT [RF-2016-02361495]
In the last decade, knowledge of the genetic basis of mitochondrial diseases has significantly advanced. Despite specific genetic alterations being associated with certain syndromic presentations, the genotype-phenotype relationship in mitochondrial disorders remains complex.
In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been associated with some syndromic presentations, the genotype-phenotype relationship in mitochondrial disorders is complex (a single mutation can cause several clinical syndromes, while different genetic alterations can cause similar phenotypes). This review will revisit the most common syndromic pictures of mitochondrial disorders, from a clinical rather than a molecular perspective. We believe that the new phenotype definitions implemented by recent large multicenter studies, and revised here, may contribute to a more homogeneous patient categorization, which will be useful in future studies on natural history and clinical trials.
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