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Muscle abnormality related to mitochondrial dysfunction

MedGen UID:: 871101
•Concept ID:: C4025566
•: Anatomical Abnormality

HPO:	HP:0003800

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMuscle abnormality related to mitochondrial dysfunction

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal muscle physiology
      - Muscle abnormality related to mitochondrial dysfunction
        Cytochrome C oxidase-negative muscle fibers
        Depletion of mitochondrial DNA in muscle tissue
        Multiple mitochondrial DNA deletions
        Inborn mitochondrial myopathy
        3-Methylglutaconic aciduria type 2
        Adenosine monophosphate deaminase deficiency
        Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
        Autosomal dominant mitochondrial myopathy with exercise intolerance
        Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
        Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
        Kearns-Sayre syndrome
        Lethal infantile mitochondrial myopathy
        Maternally-inherited progressive external ophthalmoplegia
        MERRF syndrome
        Mitochondrial complex I deficiency
        Mitochondrial complex 1 deficiency, mitochondrial type 1
        Mitochondrial complex I deficiency, nuclear type 1
        Mitochondrial complex II deficiency, nuclear type 1
        Mitochondrial DNA deletion syndrome with progressive myopathy
        Mitochondrial DNA depletion syndrome 11
        Mitochondrial DNA depletion syndrome, myopathic form
        Mitochondrial encephalomyopathy
        Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
        Mitochondrial myopathy-lactic acidosis-deafness syndrome
        Mitochondrial neurogastrointestinal encephalomyopathy
        Mitochondrial trifunctional protein deficiency
        Myopathy, lactic acidosis, and sideroblastic anemia
        Myopathy, lactic acidosis, and sideroblastic anemia 1
        Myopathy, lactic acidosis, and sideroblastic anemia 2
        Progressive external ophthalmoplegia
        Autosomal dominant progressive external ophthalmoplegia
        Autosomal recessive progressive external ophthalmoplegia
        Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
        Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
        Subsarcolemmal accumulations of abnormally shaped mitochondria

Professional guidelines

PubMed

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V
Orphanet J Rare Dis 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. PMID: 35854306 Free PMC Article

Pathophysiology and mechanisms of primary sarcopenia (Review).

Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
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Oral lichen planus - Differential diagnoses, serum autoantibodies, hematinic deficiencies, and management.

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Recent clinical studies

Etiology

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Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600 Free PMC Article

Muscle-Related Plectinopathies.

Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129 Free PMC Article

Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm.

Oller J, Gabandé-Rodríguez E, Ruiz-Rodríguez MJ, Desdín-Micó G, Aranda JF, Rodrigues-Diez R, Ballesteros-Martínez C, Blanco EM, Roldan-Montero R, Acuña P, Forteza Gil A, Martín-López CE, Nistal JF, Lino Cardenas CL, Lindsay ME, Martín-Ventura JL, Briones AM, Redondo JM, Mittelbrunn M
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Diabetic Cardiomyopathy: An Update of Mechanisms Contributing to This Clinical Entity.

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Diagnosis

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.

Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE
Mol Diagn Ther 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. PMID: 30039193 Free PMC Article

Oral lichen planus - Differential diagnoses, serum autoantibodies, hematinic deficiencies, and management.

Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048

Mitochondrial diseases.

Molnar MJ, Kovacs GG
Handb Clin Neurol 2017;145:147-155. doi: 10.1016/B978-0-12-802395-2.00010-9. PMID: 28987165

Inherited eye-related disorders due to mitochondrial dysfunction.

Yu-Wai-Man P, Newman NJ
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Therapy

Protective effects of natural products against myocardial ischemia/reperfusion: Mitochondria-targeted therapeutics.

Su X, Zhou M, Li Y, Zhang J, An N, Yang F, Zhang G, Yuan C, Chen H, Wu H, Xing Y
Biomed Pharmacother 2022 May;149:112893. Epub 2022 Mar 31 doi: 10.1016/j.biopha.2022.112893. PMID: 35366532

Sarcopenia: Ammonia metabolism and hepatic encephalopathy.

Jindal A, Jagdish RK
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Preservation of muscle mass as a strategy to reduce the toxic effects of cancer chemotherapy on body composition.

Pin F, Couch ME, Bonetto A
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Pulmonary arterial hypertension-related myopathy: an overview of current data and future perspectives.

Marra AM, Arcopinto M, Bossone E, Ehlken N, Cittadini A, Grünig E
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Mitochondrial dysfunction in migraine.

Yorns WR Jr, Hardison HH
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Prognosis

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.

Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Pathophysiology and mechanisms of primary sarcopenia (Review).

Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088

Molecular Dysfunction and Phenotypic Derangement in Diabetic Cardiomyopathy.

Evangelista I, Nuti R, Picchioni T, Dotta F, Palazzuoli A
Int J Mol Sci 2019 Jul 2;20(13) doi: 10.3390/ijms20133264. PMID: 31269778 Free PMC Article

Genetic determinants of myocardial dysfunction.

Li X, Zhang P
J Med Genet 2017 Jan;54(1):1-10. Epub 2016 Nov 21 doi: 10.1136/jmedgenet-2016-104308. PMID: 27872154

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Clinical prediction guides

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.

Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351

Cardiomyocyte mitochondrial dysfunction in diabetes and its contribution in cardiac arrhythmogenesis.

El Hadi H, Vettor R, Rossato M
Mitochondrion 2019 May;46:6-14. Epub 2019 Mar 21 doi: 10.1016/j.mito.2019.03.005. PMID: 30905865

Mitochondrial dynamics in diabetic cardiomyopathy.

Galloway CA, Yoon Y
Antioxid Redox Signal 2015 Jun 10;22(17):1545-62. Epub 2015 Apr 13 doi: 10.1089/ars.2015.6293. PMID: 25738230 Free PMC Article

Mitochondrial dynamics in heart disease.

Dorn GW 2nd
Biochim Biophys Acta 2013 Jan;1833(1):233-41. Epub 2012 Mar 16 doi: 10.1016/j.bbamcr.2012.03.008. PMID: 22450031 Free PMC Article

McLendon PM, Robbins J
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Recent systematic reviews

Significance of Asymptomatic Hyper Creatine-Kinase Emia.

Finsterer J, Scorza FA, Scorza CA
J Clin Neuromuscul Dis 2019 Dec;21(2):90-102. doi: 10.1097/CND.0000000000000269. PMID: 31743252

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Muscle abnormality related to mitochondrial dysfunction

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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