1 |
Schon KR , Ratnaike T , van den Ameele J , Horvath R , Chinnery PF . Mitochondrial diseases: a diagnostic revolution. Trends Genet, 2020, 36: 702- 717.
doi: 10.1016/j.tig.2020.06.009
|
2 |
Nissanka N , Moraes CT . Mitochondrial DNA heteroplasmy in disease and targeted nuclease -based therapeutic approaches. EMBO Rep, 2020, 21: e49612.
doi: 10.15252/embr.201949612
|
3 |
Bottoni P , Gionta G , Scatena R . Remarks on mitochondrial myopathies. Int J Mol Sci, 2022, 24: 124.
doi: 10.3390/ijms24010124
|
4 |
Zhou Y , Yi J , Liu L , Wang X , Dong L , Du A . Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy. Int J Neurosci, 2018, 128: 231- 236.
doi: 10.1080/00207454.2017.1387113
|
5 |
Cros D , Palliyath S , DiMauro S , Ramirez C , Shamsnia M , Wizer B . Respiratory failure revealing mitochondrial myopathy in adults. Chest, 1992, 101: 824- 828.
doi: 10.1378/chest.101.3.824
|
6 |
Hsu YR , Yogasundaram H , Parajuli N , Valtuille L , Sergi C , Oudit GY . MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. Heart Fail Rev, 2016, 21: 103- 116.
doi: 10.1007/s10741-015-9524-5
|
7 |
Tong Q , Xue LJ , Wang LJ , Zheng JL , Ou Z , Wei M , Yang X . Acute mitochondrial myopathy with respiratory failure and remarkably elevated creatine kinase as predominant manifestations: one case report and literature review. Zhonghua Shen Jing Yi Xue Za Zhi, 2020, 19: 197- 199.
|
|
佟强, 薛刘军, 王丽君, 郑金龙, 欧洲, 魏明, 杨秀. 以急性呼吸衰竭和肌酸激酶显著升高为突出表现的急性线粒体肌病一例报道及文献复习. 中华神经医学杂志, 2020, 19: 197- 199.
|
8 |
Pan XL , Wang LJ , Fei GQ , Jin LR . A case report of adult mitochondrial myopathy starting from respiratory failure and literature review. Shen Jing Yao Li Xue Bao, 2017, 7: 54- 55.
URL
|
|
潘晓黎, 王丽君, 费国强, 金莉蓉. 以呼吸衰竭起病的成人线粒体肌病病例报道1例并文献复习. 神经药理学报, 2017, 7: 54- 55.
URL
|
9 |
Ji KQ , Zhao YY . A case of mitochondrial myopathy with respiratory failure as the main manifestation (with video). Zhongguo Lin Chuang An Li Cheng Guo Shu Ju Ku, 2021, 03: E264- E264.
|
|
纪坤乾, 赵玉英. 以呼吸衰竭为主要表现的线粒体肌病一例(附视频). 中国临床案例成果数据库, 2021, 03: E264- E264.
|
10 |
Guo J , Liu T , Chen L . Respiratory failure as the presenting manifestation of adult-onset mitochondrial myopathy: one case report with literature review. Beijing Yi Xue, 2010, 32: 86- 89.
URL
|
|
郭军, 柳涛, 陈琳. 以呼吸衰竭为首发表现的成人线粒体肌病1例报告并文献复习. 北京医学, 2010, 32: 86- 89.
URL
|
11 |
Pan PF , Xu LS , Ji KQ , Wang DX , Li Y . Mitochondrial myopathy beginning with respiratory failure: one case and literature review. Shandong Da Xue Xue Bao (Yi Xue Ban), 2022, 60: 54- 59.
URL
|
|
潘鹏飞, 徐立升, 纪坤乾, 王得翔, 李玉. 以呼吸衰竭起病的线粒体肌病1例及文献回顾. 山东大学学报(医学版), 2022, 60: 54- 59.
URL
|
12 |
Pan X , Wang L , Fei G , Dong J , Zhong C , Lu J , Jin L . Acute respiratory failure is the initial manifestation in the adult-onset A3243G tRNALeu mtDNA mutation: a case report and the literature review. Front Neurol, 2019, 10: 780.
|
13 |
Chang KC , Mak YF , Yu WC , Lau KK , Yan WW , Chow TC . Respiratory insufficiency in a Chinese adult with mitochondrial myopathy. Hong Kong Med J, 2002, 8: 137- 140.
|
14 |
Amornvit J , Pasutharnchat N , Pachinburavan M , Jongpiputvanich S , Joyjinda Y . Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation. J Med Assoc Thai, 2014, 97: 467- 472.
|
15 |
Naddaf E , Milone M . Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve, 2017, 56: 881- 886.
|
16 |
Mao CG , Nie NN , Guo XQ , Xu M , Yang YL , Li ZP . Mitochondrial diseases with the main manifestations of cardiomyopathy and respiratory muscle damage. Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi, 2016, 31: 613- 615.
|
|
毛成刚, 聂娜娜, 郭兴青, 徐敏, 杨艳玲, 李自普. 以心肌病和呼吸肌受累为主要表现的线粒体病. 中华实用儿科临床杂志, 2016, 31: 613- 615.
|
17 |
Nagappa M , Narayanappa G . Approach to the diagnosis of metabolic myopathies. Indian J Pathol Microbiol, 2022, 65 (Supplement): S277- S290.
|
18 |
Kim GW , Kim SM , Sunwoo IN , Chi JG . Two cases of mitochondrial myopathy with predominant respiratory dysfunction. Yonsei Med J, 1991, 32: 184- 189.
|
19 |
Finsterer J . Update review about metabolic myopathies. Life (Basel), 2020, 10: 43.
|
20 |
Jones HN , Kuchibhatla M , Crisp KD , Hobson Webb LD , Case L , Batten MT , Marcus JA , Kravitz RM , Kishnani PS . Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): a protocol for a sham-controlled clinical trial. Mol Genet Metab, 2019, 127: 346- 354.
|
21 |
Olsen RK , Pourfarzam M , Morris AA , Dias RC , Knudsen I , Andresen BS , Gregersen N , Olpin SE . Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis, 2004, 27: 671- 678.
|
22 |
Toma N , Bicescu G , Enache R , Dragoi R , Cinteza M . Cardiopulmonary exercise testing in differential diagnosis of dyspnea. Maedica (Bucur), 2010, 5: 214- 218.
|
23 |
Bhatia R , Cohen BH , L McNinch N . A novel exercise testing algorithm to diagnose mitochondrial myopathy. Muscle Nerve, 2021, 63: 715- 723.
|
24 |
Ahmed ST , Craven L , Russell OM , Turnbull DM , Vincent AE . Diagnosis and treatment of mitochondrial myopathies. Neurotherapeutics, 2018, 15: 943- 953.
|
25 |
Karaa A , Bertini E , Carelli V , Cohen BH , Enns GM , Falk MJ , Goldstein A , Gorman GS , Haas R , Hirano M , Klopstock T , Koenig MK , Kornblum C , Lamperti C , Lehman A , Longo N , Molnar MJ , Parikh S , Phan H , Pitceathly RDS , Saneto R , Scaglia F , Servidei S , Tarnopolsky M , Toscano A , Van Hove JLK , Vissing J , Vockley J , Finman JS , Brown DA , Shiffer JA , Mancuso M , MMPOWER-3 Trial Investigators . Efficacy and safety of elamipretide in individuals with primary mitochondrial myopathy: the MMPOWER-3 randomized clinical trial. Neurology, 2023, 101: e238- e252.
|
26 |
Russell OM , Gorman GS , Lightowlers RN , Turnbull DM . Mitochondrial diseases: hope for the future. Cell, 2020, 181: 168- 188.
|
27 |
Zweers H , van Wegberg AMJ , Janssen MCH , Wortmann SB . Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety. Orphanet J Rare Dis, 2021, 16: 295.
|