These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy. Gehrig SM; Mihaylova V; Frese S; Mueller SM; Ligon-Auer M; Spengler CM; Petersen JA; Lundby C; Jung HH Orphanet J Rare Dis; 2016 Jul; 11(1):105. PubMed ID: 27473873 [TBL] [Abstract][Full Text] [Related]
4. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency. Vilà MR; Villarroya J; García-Arumí E; Castellote A; Meseguer A; Hirano M; Roig M J Neurol Sci; 2008 Apr; 267(1-2):137-41. PubMed ID: 18021809 [TBL] [Abstract][Full Text] [Related]
5. Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case. Uziel G; Carrara F; Granata T; Lamantea E; Mora M; Zeviani M Neuromuscul Disord; 2000 Aug; 10(6):415-8. PubMed ID: 10899447 [TBL] [Abstract][Full Text] [Related]
6. Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. Bruno C; Cassandrini D; Fattori F; Pedemonte M; Fiorillo C; Brigati G; Brisca G; Minetti C; Santorelli FM Biochem Biophys Res Commun; 2011 Sep; 412(4):518-21. PubMed ID: 21741368 [TBL] [Abstract][Full Text] [Related]
7. Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy. Leung DG; Cohen JS; Michelle EH; Bai R; Mammen AL; Christopher-Stine L J Clin Neuromuscul Dis; 2018 Mar; 19(3):117-123. PubMed ID: 29465611 [TBL] [Abstract][Full Text] [Related]
8. Mitochondrial myopathy simulating spinal muscular atrophy. Pons R; Andreetta F; Wang CH; Vu TH; Bonilla E; DiMauro S; De Vivo DC Pediatr Neurol; 1996 Sep; 15(2):153-8. PubMed ID: 8888051 [TBL] [Abstract][Full Text] [Related]
9. [Mitochondriopathies]. Ricoy-Campo JR; Cabello A Rev Neurol; 2003 Oct 16-31; 37(8):775-9. PubMed ID: 14593640 [TBL] [Abstract][Full Text] [Related]
10. Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. Nishizuka S; Tamura G; Goto Y; Murayama K; Konno T; Hakozaki M; Nonaka I; Tohgi H; Satodate R Biochem Biophys Res Commun; 1998 Jun; 247(1):24-7. PubMed ID: 9636647 [TBL] [Abstract][Full Text] [Related]
11. A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. Horváth R; Lochmüller H; Scharfe C; Do BH; Oefner PJ; Müller-Höcker J; Schoser BG; Pongratz D; Auer DP; Jaksch M J Med Genet; 2003 Oct; 40(10):752-7. PubMed ID: 14569122 [No Abstract] [Full Text] [Related]
12. When should a rheumatologist suspect a mitochondrial myopathy? Albert DA; Cohen JA; Burns CM; Hickey WF; Prock TL; James JA; Rhodes CH; Wortmann RL Arthritis Care Res (Hoboken); 2011 Nov; 63(11):1497-502. PubMed ID: 22034111 [No Abstract] [Full Text] [Related]
14. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion. Leshinsky-Silver E; Michelson M; Cohen S; Ginsberg M; Sadeh M; Barash V; Lerman-Sagie T; Lev D Eur J Paediatr Neurol; 2008 Jul; 12(4):309-13. PubMed ID: 17951082 [TBL] [Abstract][Full Text] [Related]
15. Mitochondrial Genetics. A clever way to model defects... Alfred J Nat Rev Genet; 2000 Nov; 1(2):84-5. PubMed ID: 11253658 [No Abstract] [Full Text] [Related]
16. Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease. Genge A; Karpati G; Arnold D; Shoubridge EA; Carpenter S Neuromuscul Disord; 1995 Mar; 5(2):139-44. PubMed ID: 7767093 [TBL] [Abstract][Full Text] [Related]
17. Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy. Lu JQ; Mubaraki A; Yan C; Provias J; Tarnopolsky MA J Neuropathol Exp Neurol; 2019 Jun; 78(6):508-514. PubMed ID: 31100146 [TBL] [Abstract][Full Text] [Related]
18. Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates. Ali N; Woodward CE; Sweeney M; Phadke R; Holton JL; Acheson J; Plant GT; Bremner FD J Neuroophthalmol; 2010 Jun; 30(2):153-6. PubMed ID: 20414131 [TBL] [Abstract][Full Text] [Related]