Limb-girdle muscular dystrophy type 2A

Known as: Limb-girdle muscular dystrophy type 2, Leyden-Moebius muscular dystrophy, Calpainopathy 
 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal recessive inheritanceLimb-girdle muscular dystrophy, type 2EMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S

Broader (1)

Muscular Dystrophies, Limb-Girdle

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.
Mutations in the E3 ubiquitin ligase tripartite motif-containing 32 (TRIM32) are responsible for the disease limb-girdle muscular… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2009
2009
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
Limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy) is the most frequent form of LGMD in many European countries. The… (More)
  • table 1
Is this relevant?
2008
2008
Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy.
OBJECTIVE To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb… (More)
  • table 1
  • figure 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
2007
2007
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in CAPN3, which encodes an intracellular cysteine protease… (More)
Is this relevant?
Highly Cited
2006
Highly Cited
2006
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
OBJECTIVES The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this… (More)
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Limb-girdle muscular dystrophy in the United States.
Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7 autosomal-dominant (LGMD1A to E) and 10 autosomal… (More)
  • table 1
  • table 2
  • table 3
  • table 4
Is this relevant?
2006
2006
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2001
Review
2001
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases characterized by progressive… (More)
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited neuromuscular disorders characterized by proximal… (More)
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. The… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?