Mitochondrial myopathy

Common Name(s)

Mitochondrial myopathy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial myopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mitochondrial myopathy" returned 97 free, full-text research articles on human participants. First 3 results:

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
 

Author(s): Lisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, Rachael Duff, Pascale de Lonlay, Agnes Rotig, Michel C Tchan, Mark Davis, Sandra T Cooper, John Christodoulou

Journal:

 

Mutations in the mitochondrial tyrosyl-tRNA synthetase (YARS2) gene have previously been identified as a cause of the tissue specific mitochondrial respiratory chain (RC) disorder, Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). In this study, a cohort of patients with a ...

Last Updated: 20 Dec 2013

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A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
 

Author(s): Rojeen Shahni, Yehani Wedatilake, Maureen A Cleary, Keith J Lindley, Keith R Sibson, Shamima Rahman

Journal: Am. J. Med. Genet. A. 2013 Sep;161(9):2334-8.

 

Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome ...

Last Updated: 15 Aug 2013

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Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
 

Author(s): Dario Ronchi, Alessio Di Fonzo, Weiqiang Lin, Andreina Bordoni, Changwei Liu, Elisa Fassone, Serena Pagliarani, Mafalda Rizzuti, Li Zheng, Massimiliano Filosto, Maria Teresa Ferrò, Michela Ranieri, Francesca Magri, Lorenzo Peverelli, Hongzhi Li, Yate-Ching Yuan, Stefania Corti, Monica Sciacco, Maurizio Moggio, Nereo Bresolin, Binghui Shen, Giacomo Pietro Comi

Journal: Am. J. Hum. Genet.. 2013 Feb;92(2):293-300.

 

Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. ...

Last Updated: 11 Feb 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mitochondrial myopathy" returned 3 free, full-text review articles on human participants. First 3 results:

Mitochondrial myopathy: a rare cause of early-onset vocal fold atrophy.
 

Author(s): Elizabeth A Kelly, Jonathan M Bock, Amanda C Peltier, Shin J Oh, C Gaelyn Garrett

Journal: Ann. Otol. Rhinol. Laryngol.. 2013 Mar;122(3):177-82.

 

We present the second published case of laryngeal involvement in mitochondrial myopathy.

Last Updated: 12 Apr 2013

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Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
 

Author(s): Hugues Blondon, Marc Polivka, Francisca Joly, Bernard Flourie, Jacqueline Mikol, Bernard Messing

Journal: Gastroenterol. Clin. Biol.. ;29(8-9):773-8.

 

We report 3 new cases of Mitochondrial-Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencephalopathy-Intestinal-Pseudoobstruction Syndrome [POLIP]), a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms. ...

Last Updated: 18 Nov 2005

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Mitochondrial myopathy: a genetic study of 71 cases.
 

Author(s): A E Harding, R K Petty, J A Morgan-Hughes

Journal: J. Med. Genet.. 1988 Aug;25(8):528-35.

 

Of 71 index cases with histologically defined mitochondrial myopathy, 13 (18%) had relatives who were definitely affected with a similar disorder. Eight familial cases from four families were confined to a single generation. In five families maternal transmission to offspring occurred. ...

Last Updated: 23 Nov 1988

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease
 

Status: Recruiting

Condition Summary: Mitochondrial Myopathy

 

Last Updated: 18 May 2009

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Tissue Sample Study for Mitochondrial Disorders
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Disease; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease

 

Last Updated: 1 Mar 2013

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Natural History Study - Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Mitochondrial DNA Mutation

 

Last Updated: 29 Jul 2013

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