Limb-girdle muscular dystrophy type 2A

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
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
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
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
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
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 (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
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
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
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
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?