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Mitochondrial myopathy, isolated

MedGen UID:
865043
•Concept ID:
C4016606
•
Finding
Synonym: MITOCHONDRIAL MYOPATHY, ISOLATED
 
OMIM®: 590015

Professional guidelines

PubMed

Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Santa KM
Pharmacotherapy 2010 Nov;30(11):1179-96. doi: 10.1592/phco.30.11.1179. PMID: 20973690
Current options in the treatment of mitochondrial diseases.
Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M
Recent Pat CNS Drug Discov 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. PMID: 20722626
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.
Scaglia F, Northrop JL
CNS Drugs 2006;20(6):443-64. doi: 10.2165/00023210-200620060-00002. PMID: 16734497

Recent clinical studies

Etiology

Activation of the Aryl Hydrocarbon Receptor in Muscle Exacerbates Ischemic Pathology in Chronic Kidney Disease.
Balestrieri N, Palzkill V, Pass C, Tan J, Salyers ZR, Moparthy C, Murillo A, Kim K, Thome T, Yang Q, O'Malley KA, Berceli SA, Yue F, Scali ST, Ferreira LF, Ryan TE
Circ Res 2023 Jul 7;133(2):158-176. Epub 2023 Jun 16 doi: 10.1161/CIRCRESAHA.123.322875. PMID: 37325935Free PMC Article
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Mitochondrial cytopathies and the kidney.
Emma F, Salviati L
Nephrol Ther 2017 Apr;13 Suppl 1:S23-S28. doi: 10.1016/j.nephro.2017.01.014. PMID: 28577739
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418
Drug-induced myopathies.
Bannwarth B
Expert Opin Drug Saf 2002 May;1(1):65-70. doi: 10.1517/14740338.1.1.65. PMID: 12904161

Diagnosis

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Primary mitochondrial myopathies in childhood.
Olimpio C, Tiet MY, Horvath R
Neuromuscul Disord 2021 Oct;31(10):978-987. doi: 10.1016/j.nmd.2021.08.005. PMID: 34736635
CSF lactate.
Baheerathan A, Pitceathly RD, Curtis C, Davies NW
Pract Neurol 2020 Aug;20(4):320-323. Epub 2020 May 13 doi: 10.1136/practneurol-2019-002191. PMID: 32404406
Progressive External Ophthalmoplegia.
McClelland C, Manousakis G, Lee MS
Curr Neurol Neurosci Rep 2016 Jun;16(6):53. doi: 10.1007/s11910-016-0652-7. PMID: 27072953
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

Therapy

Fibroblast growth factor 21 controls mitophagy and muscle mass.
Oost LJ, Kustermann M, Armani A, Blaauw B, Romanello V
J Cachexia Sarcopenia Muscle 2019 Jun;10(3):630-642. Epub 2019 Mar 20 doi: 10.1002/jcsm.12409. PMID: 30895728Free PMC Article
Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?
Busch KB, Kowald A, Spelbrink JN
Philos Trans R Soc Lond B Biol Sci 2014 Jul 5;369(1646):20130442. doi: 10.1098/rstb.2013.0442. PMID: 24864312Free PMC Article
Current options in the treatment of mitochondrial diseases.
Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M
Recent Pat CNS Drug Discov 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. PMID: 20722626
Drug-induced myopathies.
Bannwarth B
Expert Opin Drug Saf 2002 May;1(1):65-70. doi: 10.1517/14740338.1.1.65. PMID: 12904161
Muscle disorders associated with cyclosporine treatment.
Breil M, Chariot P
Muscle Nerve 1999 Dec;22(12):1631-6. doi: 10.1002/(sici)1097-4598(199912)22:12<1631::aid-mus3>3.0.co;2-v. PMID: 10567074

Prognosis

Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
CSF lactate.
Baheerathan A, Pitceathly RD, Curtis C, Davies NW
Pract Neurol 2020 Aug;20(4):320-323. Epub 2020 May 13 doi: 10.1136/practneurol-2019-002191. PMID: 32404406
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Santa KM
Pharmacotherapy 2010 Nov;30(11):1179-96. doi: 10.1592/phco.30.11.1179. PMID: 20973690

Clinical prediction guides

Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y, Li Z, Callon D, Suspène R, Batoumeni V, Canette A, Blanc J, Hocini H, Lefebvre C, El-Jahrani N, Kitsara M, L'honoré A, Kordeli E, Fornes P, Concordet JP, Tachdjian G, Rodriguez AM, Vartanian JP, Béhin A, Wahbi K, Joanne P, Agbulut O
Stem Cell Res Ther 2024 Jan 2;15(1):10. doi: 10.1186/s13287-023-03619-7. PMID: 38167524Free PMC Article
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Shammas MK, Nie Y, Gilsrud A, Huang X, Narendra DP, Chinnery PF
Hum Mol Genet 2023 Dec 12;33(1):91-101. doi: 10.1093/hmg/ddad161. PMID: 37815936Free PMC Article
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini E, Favalli V, Narula N, Serio A, Grasso M
J Am Coll Cardiol 2016 Aug 30;68(9):949-66. doi: 10.1016/j.jacc.2016.05.096. PMID: 27561770
The heritability of strabismus.
Paul TO, Hardage LK
Ophthalmic Genet 1994 Mar;15(1):1-18. doi: 10.3109/13816819409056905. PMID: 7953247

Recent systematic reviews

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Muscle disorders associated with cyclosporine treatment.
Breil M, Chariot P
Muscle Nerve 1999 Dec;22(12):1631-6. doi: 10.1002/(sici)1097-4598(199912)22:12<1631::aid-mus3>3.0.co;2-v. PMID: 10567074

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