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 115 free, full-text research articles on human participants. First 3 results:

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
 

Author(s): Hanan E Shamseldin, Laura L Smith, Amal Kentab, Hisham Alkhalidi, Brady Summers, Haifa Alsedairy, Yong Xiong, Vandana A Gupta, Fowzan S Alkuraya

Journal: Hum. Genet.. 2016 Jan;135(1):21-30.

 

Myopathies are heterogeneous disorders characterized clinically by weakness and hypotonia, usually in the absence of gross dystrophic changes. Mitochondrial dysfunction is a frequent cause of myopathy. We report a simplex case born to consanguineous parents who presented with muscle ...

Last Updated: 4 Jan 2016

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Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.
 

Author(s): Anca Florian, Anna Ludwig, Bianca Stubbe-Dräger, Matthias Boentert, Peter Young, Johannes Waltenberger, Sabine Rösch, Udo Sechtem, Ali Yilmaz

Journal:

 

Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography ...

Last Updated: 24 May 2015

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Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans.
 

Author(s): Fan-Yan Wei, Bo Zhou, Takeo Suzuki, Keishi Miyata, Yoshihiro Ujihara, Haruki Horiguchi, Nozomu Takahashi, Peiyu Xie, Hiroyuki Michiue, Atsushi Fujimura, Taku Kaitsuka, Hideki Matsui, Yasutoshi Koga, Satoshi Mohri, Tsutomu Suzuki, Yuichi Oike, Kazuhito Tomizawa

Journal: Cell Metab.. 2015 Mar;21(3):428-42.

 

Transfer RNAs (tRNAs) contain a wide variety of posttranscriptional modifications that are important for accurate decoding. Mammalian mitochondrial tRNAs (mt-tRNAs) are modified by nuclear-encoded tRNA-modifying enzymes; however, the physiological roles of these modifications remain ...

Last Updated: 5 Mar 2015

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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 9 free, full-text review articles on human participants. First 3 results:

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
 

Author(s): Paulo José Lorenzoni, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Carlos Eduardo Soares Silvado, Rosana Herminia Scola

Journal: Arq Neuropsiquiatr. 2015 Nov;73(11):959-67.

 

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial ...

Last Updated: 31 Oct 2015

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Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.
 

Author(s): Ying-Xin Wang, Wei-Dong Le

Journal: Chin. Med. J.. 2015 Jul;128(13):1820-5.

 

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a progressive, multisystem affected mitochondrial disease associated with a number of disease-related defective genes. MELAS has unpredictable presentations and clinical course, and it can ...

Last Updated: 26 Jun 2015

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Scoliosis in mitochondrial myopathy: case report and review of the literature.
 

Author(s): Zheng Li, Jianxiong Shen, Jinqian Liang

Journal: Medicine (Baltimore). 2015 Feb;94(6):e513.

 

The mitochondrial myopathies include a diverse group of disorders characterized by morphological abnormalities of muscle mitochondria. Little is reported about spinal deformity associated with this syndrome.This study presents a case of scoliosis occurring in the setting of mitochondrial ...

Last Updated: 14 Feb 2015

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR
 

Status: Recruiting

Condition Summary: MItochondrial Myopathies

 

Last Updated: 16 Jun 2016

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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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A Study of Bezafibrate in Mitochondrial Myopathy
 

Status: Recruiting

Condition Summary: Mitochondrial Diseases

 

Last Updated: 8 Oct 2015

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