- Tytuł:
- A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
- Autorzy:
- Źródło:
- Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Sep; Vol. 29 (9), pp. 693-697. Date of Electronic Publication: 2019 Aug 21.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- Język:
- English
- Imprint Name(s):
- Original Publication: Oxford ; New York : Pergamon Press, c1991-
- MeSH Terms:
-
DNA, Mitochondrial/*genetics
Muscle, Skeletal/*pathology
Ophthalmoplegia, Chronic Progressive External/*genetics
RNA, Transfer, Met/*genetics
Aged ; Electron Transport Complex IV/metabolism ; Female ; Humans ; Muscle, Skeletal/metabolism ; Mutation ; Severity of Illness Index - Grant Information:
- G0800674 United Kingdom MRC_ Medical Research Council; MR/L016354/1 United Kingdom MRC_ Medical Research Council; 203105/Z/16/Z United Kingdom WT_ Wellcome Trust
- Contributed Indexing:
- Keywords: Chronic progressive external ophthalmoplegia; MTTM; Mitochondrial disease; Myopathy; m.4414T>C; mtDNA variant
- Substance Nomenclature:
-
0 (DNA, Mitochondrial)
0 (RNA, Transfer, Met)
EC 1.9.3.1 (Electron Transport Complex IV) - Entry Date(s):
- Date Created: 20190907 Date Completed: 20200824 Latest Revision: 20210110
- Update Code:
- 20221216
- DOI:
- 10.1016/j.nmd.2019.08.005
- PMID:
- 31488384
- Czasopismo naukowe