Mitochondrial diseases

Mitochondrial myopathies represent a range of diseases differing, sometimes a lot, from one another. Among them notably, there are MELAS syndrome (mitochondrial encephalopathy lactic acidosis stroke syndrome), MERRF (myoclonic epilepsy ragged red fibers syndrome), KSS syndrome (Kearns-Sayre syndrome), progressive ophtalmoplegia, ocular myopathy…

All mitochondrial myopathies are diseases of genetic origins. Genetics for these diseases are very complex, though more and more understood by researchers studying them. The recent progresses in high throughput sequencing methods enabled, in 2012 alone, to discover that UQCRC2, PNPT1, RMD1, LARS, FARS2, BOLA3, MTFMT, EARS2, ACO2, AGK and AFG3L2 genes were involved in these diseases.

Prospective follow-up of a cohort of patients with mitochondrial diseases

  • Reference laboratory: Institute of Myology

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