Dysferlinopathy Overview

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Learn About Dysferlinopathy

What is the definition of Dysferlinopathy?
The diseases in the group are: All dysferlinopathies are caused by pathogenic variations in the DYSF gene which result in a deficiency of the protein dysferlin (hence, the name), important for the efficient repair of muscle fibers. Inheritance is autosomal recessive.
What are the alternative names for Dysferlinopathy?
  • Dysferlinopathy
  • Dystrophinopathy
Who are the top Dysferlinopathy Local Doctors?
Elite in Dysferlinopathy
Laura E. Rufibach
Elite in Dysferlinopathy
Laura E. Rufibach
Central Parkway, 
Newcastle Upon Tyne, ENG, GB 

Laura Rufibach practices in Newcastle Upon Tyne, United Kingdom. Ms. Rufibach is rated as an Elite expert by MediFind in the treatment of Dysferlinopathy. Her top areas of expertise are Miyoshi Myopathy, Dysferlinopathy, Limb-Girdle Muscular Dystrophy, and Cramp-Fasciculation Syndrome.

Elite in Dysferlinopathy
Simone Spuler
Elite in Dysferlinopathy
Simone Spuler
Central Parkway, 
Newcastle Upon Tyne, ENG, GB 

Simone Spuler practices in Newcastle Upon Tyne, United Kingdom. Ms. Spuler is rated as an Elite expert by MediFind in the treatment of Dysferlinopathy. Her top areas of expertise are Dysferlinopathy, Limb-Girdle Muscular Dystrophy, Miyoshi Myopathy, and Myotonic Dystrophy Type 2.

 
 
 
 
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Elite in Dysferlinopathy
Anna G. Mayhew
Elite in Dysferlinopathy
Anna G. Mayhew
Central Parkway, 
Newcastle Upon Tyne, ENG, GB 

Anna Mayhew practices in Newcastle Upon Tyne, United Kingdom. Ms. Mayhew is rated as an Elite expert by MediFind in the treatment of Dysferlinopathy. Her top areas of expertise are Dysferlinopathy, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, and Spinal Muscular Atrophy (SMA).

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center