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DYSF wt Allele

Known as: FER1L1, Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) wt Allele, FLJ00175 
Human DYSF wild-type allele is located in the vicinity of 2p13.3 and is approximately 233 kb in length. This allele, which encodes dysferlin protein… 
National Institutes of Health

Related topics

Related topics

7 relations
Calcium SignalingDistal Muscular DystrophiesLigand BindingMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

Broader (1)

DYSF gene

Papers overview

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Review
2018
Review
2018
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage
Rationale: Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by… 
2018
2018
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
Antisense-mediated exon skipping and exon inclusion have proven to be powerful tools for treating neuromuscular diseases. The… 
Review
2017
Review
2017
Limb‐Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy
2016
2016
MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B
miRNA expression profile and predicted pathways involved in selected limb‐girdle muscular dystrophy (LGMD)2A/2B patients were… 
2013
2013
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy
2009
2009
Amyloidose bei Muskeldystrophie
ZusammenfassungMutationen im Gen für Dysferlin (DYSF) verursachen Gliedergürtelmuskeldystrophie 2B (LGMD2B) und Miyoshi-Myopathie… 
2009
2009
3rd Annual Dysferlin Conference 2–5 June 2009, Boston, Massachusetts, USA
2007
2007
Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
Dysferlin protein (DYSF) is a ferlin family member found in sarcolemma and is involved in membrane repair, muscle differentiation… 
1999
1999
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
1996
1996
The molecular biology of LGMD2B — Towards the identification of the LGMD gene on chromosome 2p13
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