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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
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National Institutes of Health
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Related topics
Related topics
11 relations
Autosomal recessive inheritance
Joint contracture
Lordosis
Muscle 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
V. Nigro
,
M. Savarese
Acta myologica
2014
Corpus ID: 2320113
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.
T. Lasho
,
A. Pardanani
,
A. Tefferi
New England Journal of Medicine
2010
Corpus ID: 205044303
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
M. Guglieri
,
F. Magri
,
+25 authors
G. Comi
Human Mutation
2008
Corpus ID: 23925842
Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12…
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Review
2002
Review
2002
Medical comorbidity and late life depression: what is known and what are the unmet needs?
M. Charlson
,
J. Peterson
Biological Psychiatry
2002
Corpus ID: 34758609
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.
H. Yamada
,
F. Saito
,
+7 authors
K. Matsumura
Human Molecular Genetics
2001
Corpus ID: 19039549
The dystroglycan complex is a membrane-spanning complex composed of two subunits, alpha- and beta-dystroglycan. alpha…
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Highly Cited
1996
Highly Cited
1996
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
M. Vainzof
,
M. Passos-Bueno
,
+9 authors
M. Zatz
Human Molecular Genetics
1996
Corpus ID: 17433809
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 limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
V. Nigro
,
E. S. Moreira
,
+6 authors
M. Zatz
Nature Genetics
1996
Corpus ID: 25671609
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited neuromuscular disorders characterized by proximal…
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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.
V. Nigro
,
E. de Sá Moreira
,
+6 authors
M. Zatz
Nature Genetics
1996
Corpus ID: 8250819
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited neuromuscular disorders characterized by proximal…
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Review
1995
Review
1995
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
K. Campbell
Cell
1995
Corpus ID: 17563667
Highly Cited
1994
Highly Cited
1994
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
R. Bashir
,
T. Strachan
,
+5 authors
K. Bushby
Human Molecular Genetics
1994
Corpus ID: 1263607
The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large…
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