| pubmed-article:19458970 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C0917796 | lld:lifeskim |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C0013421 | lld:lifeskim |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C1537991 | lld:lifeskim |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:19458970 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:19458970 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:19458970 | pubmed:dateCreated | 2009-10-1 | lld:pubmed |
| pubmed-article:19458970 | pubmed:abstractText | Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial ND6 or ND4 gene. In this paper, we describe a Chinese family with 18 LDYT patients. The comprehensive nucleotide sequence analysis of the entire mitochondrial genome using resequencing microarray revealed a mutation (mtND3*10197A (m.10197G>A)) substituting a threonine for a highly conserved alanine at codon 47 of MTND3 on the background of haplogroup D4b. Quantitative analysis of the heteroplasmy of the mutation revealed a homoplasmy in the leukocytes of all the affected individuals on the maternal side. This is the first description of the ND3 mutation causing LDYT. The mtND3*10197A (m.10197G>A) mutation has recently been described in French and Korean patients with Leigh syndrome. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome. | lld:pubmed |
| pubmed-article:19458970 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19458970 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19458970 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19458970 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19458970 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19458970 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19458970 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:19458970 | pubmed:issn | 1364-6753 | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:GoodM PMP | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:TakahashiYuji... | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:TsujiShojiS | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:WangKangK | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:WangGuo-Xiang... | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:LouJin-NingJN | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:GaoZong-Liang... | lld:pubmed |
| pubmed-article:19458970 | pubmed:author | pubmed-author:ChenXian-WenX... | lld:pubmed |
| pubmed-article:19458970 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19458970 | pubmed:volume | 10 | lld:pubmed |
| pubmed-article:19458970 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19458970 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19458970 | pubmed:pagination | 337-45 | lld:pubmed |
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| pubmed-article:19458970 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19458970 | pubmed:articleTitle | Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. | lld:pubmed |
| pubmed-article:19458970 | pubmed:affiliation | Department of Pathology and Pathophysiology, Graduate School, Peking Union Medical College, Beijing, China. | lld:pubmed |
| pubmed-article:19458970 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19458970 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:4537 | entrezgene:pubmed | pubmed-article:19458970 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19458970 | lld:entrezgene |
