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

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

Sarcoglycanopathies

Papers overview

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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… (More)
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Review
2002
Review
2002
Medical comorbidity and late life depression: what is known and what are the unmet needs?
Depression is an important problem in older patients with multiple medical problems, where the under-recognition and… (More)
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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… (More)
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1999
1999
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
The autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are a heterogeneous group of disorders of progressive… (More)
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1997
1997
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
The group of autosomal recessive (AR) muscular dystrophies includes, among others, two main clinical entities, the limb-girdle… (More)
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1997
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… (More)
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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… (More)
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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… (More)
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1996
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… (More)
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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… (More)
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