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Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)

Known as: LGMD2C, Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency, DMDA 
National Institutes of Health

Related topics

Related topics

11 relations
Autosomal recessive inheritanceJoint contractureLordosisMuscle fiber necrosis
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Broader (1)

Sarcoglycanopathies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary… 
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Highly Cited
2010
Highly Cited
2010
LNK mutations in JAK2 mutation-negative erythrocytosis.
To the Editor: Erythrocytosis occurring in association with a subnormal serum erythropoietin level is indicative of underlying… 
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Highly Cited
2008
Highly Cited
2008
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12… 
Highly Cited
2001
Highly Cited
2001
Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex.
The dystroglycan complex is a membrane-spanning complex composed of two subunits, alpha- and beta-dystroglycan. alpha… 
Highly Cited
1997
Highly Cited
1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect… 
Highly Cited
1996
Highly Cited
1996
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited neuromuscular disorders characterized by proximal… 
Highly Cited
1996
Highly Cited
1996
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically… 
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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… 
Review
1995
Review
1995
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle… 
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Highly Cited
1994
Highly Cited
1994
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large… 
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