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

Laura Rufibach practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Rufibach is rated as an Elite expert by MediFind in the treatment of Dysferlinopathy. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Miyoshi Myopathy, Dysferlinopathy, Limb-Girdle Muscular Dystrophy, and Cramp-Fasciculation Syndrome.

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

Simone Spuler practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Spuler is rated as an Elite expert by MediFind in the treatment of Dysferlinopathy. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Dysferlinopathy, Limb-Girdle Muscular Dystrophy, Miyoshi Myopathy, and Myotonic Dystrophy Type 2.

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

Anna Mayhew practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Mayhew is rated as an Elite expert by MediFind in the treatment of Dysferlinopathy. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Dysferlinopathy, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, and Spinal Muscular Atrophy (SMA).

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Who are the sources who wrote this article ?

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

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