Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome.
10.1097/CM9.0000000000000151
- Author:
Jun FU
1
;
Ming-Ming MA
;
Mi PANG
;
Liang YANG
;
Gang LI
;
Jia SONG
;
Jie-Wen ZHANG
Author Information
1. Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China.
- Publication Type:Case Reports
- MeSH:
Adult;
DNA, Mitochondrial;
genetics;
Electroencephalography;
Humans;
MERRF Syndrome;
genetics;
Male;
Mitochondrial Myopathies;
genetics;
Mutation;
RNA, Transfer, Asn;
genetics
- From:
Chinese Medical Journal
2019;132(7):865-867
- CountryChina
- Language:English
