Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
about
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.Clinical mitochondrial genetics.Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseDiabetes mellitus and the nervous systemPrevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Endocrine disorders in mitochondrial disease.
P2860
Q33681493-ACFA778A-A659-4305-A4BE-148D512393DDQ33955376-02241BC6-5388-4719-AABA-EC4A8DED97D1Q34386122-EF67D2A8-B301-4C4F-AA9C-D740EFEE66F7Q36035749-535F9C7A-D05D-40AA-9BD5-8E301F496C89Q36319022-69285647-5762-48CE-BC68-C547E5DCDB9DQ36532577-C4EBD7BC-2A62-4B6B-ACC5-44AA853E4AF1Q37286619-C0ADD95C-8C27-4D22-B025-C507BA411556
P2860
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@ast
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@en
type
label
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@ast
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@en
prefLabel
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@ast
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@en
P2093
P2860
P1476
Congenital encephalomyopathy a ...... A tRNA glutamic acid mutation.
@en
P2093
Harding AE
Morgan-Hughes JA
Sweeney MG
Watkins PJ
P2860
P304
P407
P577
1995-05-01T00:00:00Z