Dysferlinopathy

Common Name(s)

Dysferlinopathy

Dysferlinopathies are muscular dystrophies caused by mutations in the dysferlin gene. Examples of dysferlinopathies include limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Jain Foundation

Our mission is to cure muscular dystrophies caused by dysferlin protein deficiency called dysferlinopathies, limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1). Our strategy includes funding and actively monitoring the progress of scientific research projects in key pathways towards a cure, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating LGMD2B/Miyoshi patients and helping them with their diagnosis.

Last Updated: 22 May 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Jain Foundation

Our mission is to cure muscular dystrophies caused by dysferlin protein deficiency called dysferlinopathies, limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1). Our strategy includes funding and actively monitoring the progress of scientific research projects in key pathways towards a cure, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating LGMD2B/Miyoshi patients and helping them with their diagnosis.

http://www.jain-foundation.org

Last Updated: 22 May 2015

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General Support Organizations

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General Resources

ALDA - Automated LGMD Diagnostic Assistant

Online tool that helps physicians diagnose their patients. US patients may be eligible for free diagnostic sequencing.

Uploaded By: Jain Foundation

Updated 22 May 2015

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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 "Dysferlinopathy" returned 24 free, full-text research articles on human participants. First 3 results:

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
 

Author(s): Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang

Journal: Chin. Med. J.. 2016 10;129(19):2287-93.

 

Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease.

Last Updated: 31 Dec 1969

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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
 

Author(s): Jens A Petersen, Thierry Kuntzer, Dirk Fischer, Maja von der Hagen, Angela Huebner, Veronika Kana, Johannes A Lobrinus, Wolfram Kress, Elisabeth J Rushing, Michael Sinnreich, Hans H Jung

Journal:

 

Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters.

Last Updated: 31 Dec 1969

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CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy.
 

Author(s): Xi Yin, Qian Wang, Ting Chen, Junwei Niu, Rui Ban, Jiexiao Liu, Yanling Mao, Chuanqiang Pu

Journal:

 

Dysferlin is a sarcolemmal protein that plays an important role in membrane repair by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene (DYSF) lead to multiple clinical phenotypes, including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B ...

Last Updated: 31 Dec 1969

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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 "Dysferlinopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.