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Longer titles found: Leigh syndrome, French Canadian type (view)

searching for Leigh syndrome 17 found (90 total)

MT-TW (646 words) [view diff] exact match in snippet view article find links to article

transfer RNA". Learn Science at Scitable. Reference, Genetics Home. "Leigh syndrome". Genetics Home Reference. This article incorporates text from this

SLC25A46 (1,075 words) [view diff] exact match in snippet view article find links to article

mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome". EMBO Molecular Medicine. 8 (9): 1019–38. doi:10.15252/emmm.201506159

MT-ND6 (2,027 words) [view diff] exact match in snippet view article find links to article

this MT-ND6 gene alteration is related to the specific features of Leigh syndrome, LHON, or dystonia. It also remains unclear why a single mutation can

MT-TV (mitochondrial) (585 words) [view diff] case mismatch in snippet view article

S2CID 25775432. GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP This article incorporates text from the United States National

MT-ND5 (872 words) [view diff] case mismatch in snippet view article find links to article

COPaKB GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP This article incorporates text from the United States National

NDUFA4 (919 words) [view diff] exact match in snippet view article find links to article

also called cytochrome c oxidase or COX, is the most common cause of Leigh syndrome. Given that NDUFA4 has only recently been identified as a subunit of

FARS2 (1,264 words) [view diff] case mismatch in snippet view article find links to article

PMID 8125298. Nuclear Gene-Encoded Leigh Syndrome Overview Mitochondrial DNA-Associated Leigh Syndrome and NARP Overview of all the structural information

MT-TL1 (1,365 words) [view diff] case mismatch in snippet view article find links to article

S2CID 38721676. GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP GeneReviews/NCBI/NIH/UW entry on MELAS Yarham JW, Blakely EL

MT-ND4 (2,123 words) [view diff] case mismatch in snippet view article find links to article

COPaKB Thorburn DR, Rahman S (1993–2015). "Mitochondrial DNA-Associated Leigh Syndrome and NARP". In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A

NDUFS6 (971 words) [view diff] exact match in snippet view article find links to article

encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease

NDUFA12 (1,196 words) [view diff] exact match in snippet view article find links to article

chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome". Journal of Medical Genetics. 48 (11): 737–40. doi:10.1136/jmg.2011

Mitochondrial optic neuropathies (3,717 words) [view diff] exact match in snippet view article find links to article

myoclonic epilepsy and ragged red fibers (MERRF), maternally inherited Leigh syndrome (MILS), and mitochondrial neurograstrointestinal encephalomyopathy (MNGIE)

NDUFA9 (1,522 words) [view diff] exact match in snippet view article find links to article

(August 2005). "Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial

COX7B (1,262 words) [view diff] exact match in snippet view article find links to article

analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.

NDUFV2 (1,666 words) [view diff] exact match in snippet view article find links to article

encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease

SCO1 (1,850 words) [view diff] exact match in snippet view article find links to article

resulting in neonatal death. A subset of patients also suffers from Leigh syndrome. Specifically, cases of pathogenic SCO1 mutations have resulted in fatal

Wendy Chung (3,482 words) [view diff] exact match in snippet view article find links to article

mutations and disease associations with Wolfram syndrome, Wolman disease, Leigh syndrome, glycogen storage disease type III, and juvenile idiopathic arthritis