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Muscular Dystrophies, Limb-Girdle

Known as: MUSCULAR DYSTROPHY, LIMB GIRDLE TYPE, Limb-Girdle Muscular Dystrophies, Muscular dystrophy, limb-girdle 
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs… Expand
National Institutes of Health

Related topics

Related topics

37 relations
Becker Muscular DystrophyConnective and Soft TissueDYSF geneDYSF protein, human
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Narrower (18)

DysferlinopathyEpidermolysa bullosa simplex and limb girdle muscular dystrophyINCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIALimb-girdle muscular dystrophy type 2A
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Broader (2)

Muscular DystrophyMyopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Defective membrane repair in dysferlin-deficient muscular dystrophy
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle… Expand
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Highly Cited
2001
Highly Cited
2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… Expand
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Highly Cited
2000
Highly Cited
2000
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
LGMD1B is an autosomal dominantly inherited, slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular… Expand
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Highly Cited
2000
Highly Cited
2000
Transplantation of ex vivo expanded endothelial progenitor cells for therapeutic neovascularization.
Animal studies and preliminary results in humans suggest that lower extremity and myocardial ischemia can be attenuated by… Expand
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Review
2000
Review
2000
Molecular basis of muscular dystrophies
Muscular dystrophies represent a heterogeneous group of disorders, which have been largely classified by clinical phenotype. In… Expand
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Highly Cited
1998
Highly Cited
1998
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome… Expand
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Highly Cited
1998
Highly Cited
1998
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect… Expand
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Highly Cited
1998
Highly Cited
1998
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal… Expand
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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… Expand
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Highly Cited
1973
Highly Cited
1973
Pattern of malformation in offspring of chronic alcoholic mothers.
Case histories are presented of 8 unrelated children born to mothers who were chronic alcoholics. These children showed a… Expand
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