mitochondrial disorders


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mitochondrial disorders

a group of diverse hereditary disorders caused by genetic mutation of mitochrondrial DNA; includes ragged red fiber myopathy; progressive external ophthalmoplegia; Leigh syndrome; myoclonic epilepsy with ragged red fiber myopathy (MERRF); mitochondrial myopathy, encephalopathy, lactic cidosis, and stroke (MELAS); and Lieber optic neuropathy.

mi·to·chon·dri·al dis·or·ders

(mī'-tō-kon'drē-ăl dis-ōr'dĕrz)
Diverse hereditary disorders caused by genetic mutation of mitochrondrial DNA.
References in periodicals archive ?
Renal manifestations of primary mitochondrial disorders. Biomed Rep 2017;6:487-94.
Maternally inherited diabetes and deafness (MIDD) is a syndromic mitochondrial disorder (MID) characterized by type 2 diabetes and hearing impairment.
Qualitative data concerning activities of children with mitochondrial disorders were extracted from clinical notes of (allied) health care professionals (MitoRoute) in the electronic patient records.
The detection includes cardiomyopathy, multiple sclerosis, drug-resistant cancer types, aneurysms and mitochondrial disorders.
One of the newer developments in the science of autism includes the links to mitochondrial disorders. Guilivi et al.
The breakthrough came from researchers at Newcastle University who have developed a genetic test to identify mitochondrial disorders.
Because they are considered rare diseases, mitochondrial disorders (MD) did not use to be scientifically investigated in a systematic manner.
An overview of a cohort of South African patients with mitochondrial disorders. J Inherit Metab Dis 2010;33(Suppl 3):S95-S104.
"Raxone represents a major breakthrough in mitochondrial disease treatment, and its approval paves the way for patients with LHON to be treated and to achieve a meaningful improvement of their visual acuity," said Thomas Klopstock, MD, Professor for Neurology at the University of Munich, LHON researcher and coordinator of the German network for mitochondrial disorders, mitoNET.
Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012;4:CD004426.

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