Mitochondrial myopathy

Common Name(s)

Mitochondrial myopathy

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine Kinase-emia.
 

Author(s): Satoshi Nozuma, Yuji Okamoto, Itsuro Higuchi, Junhui Yuan, Akihiro Hashiguchi, Yusuke Sakiyama, Akiko Yoshimura, Yujiro Higuchi, Hiroshi Takashima

Journal: Intern. Med.. 2015 ;54(24):3209-14.

 

Mitochondrial myopathy with episodic hyper-creatine kinase (CK)-emia (MIMECK) is a new disease entity characterized by episodic or persistent muscle weakness and elevated CK levels. We herein report two cases of MIMECK with the findings of histopathological studies. Histopathological ...

Last Updated: 15 Dec 2015

Go To URL
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

Go To URL
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.
 

Author(s): Mariana C Rocha, John P Grady, Anne Grünewald, Amy Vincent, Philip F Dobson, Robert W Taylor, Doug M Turnbull, Karolina A Rygiel

Journal:

 

Oxidative phosphorylation defects in human tissues are often challenging to quantify due to a mosaic pattern of deficiency. Biochemical assays are difficult to interpret due to the varying enzyme deficiency levels found in individual cells. Histochemical analysis allows semi-quantitative ...

Last Updated: 16 Oct 2015

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

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: 14 Nov 2016

Go to URL
A Study of Bezafibrate in Mitochondrial Myopathy
 

Status: Recruiting

Condition Summary: Mitochondrial Diseases

 

Last Updated: 8 Oct 2015

Go to URL
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
 

Status: Not yet recruiting

Condition Summary: Spinal Muscular Atrophy Type 3; Mitochondrial Myopathy

 

Last Updated: 6 Sep 2016

Go to URL