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Limb-girdle muscular dystrophy, type 2E

Known as: Beta-sarcoglycan limb-girdle muscular dystrophy, LGMD2E, Muscular Dystrophy, Limb-Girdle, Type 2E 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal recessive inheritanceLimb-girdle muscular dystrophy type 2AMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2SProximal amyotrophy

Broader (2)

Muscular Dystrophies, Limb-GirdleSarcoglycanopathies

Papers overview

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Highly Cited
2017
Highly Cited
2017
MRI in sarcoglycanopathies: a large international cohort study
Objectives To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with… 
2015
2015
Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study.
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… 
Highly Cited
2008
Highly Cited
2008
Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy.
OBJECTIVE To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb… 
Highly Cited
2008
Highly Cited
2008
Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?
2003
2003
Novel sarcoglycan gene mutations in a large cohort of Italian patients
The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (LGMD) resulting from mutations in… 
Highly Cited
1998
Highly Cited
1998
β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
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
1997
Highly Cited
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… 
Highly Cited
1996
Highly Cited
1996
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD.
Limb-girdle muscular dystrophies (LGMDs) represent a clinically heterogeneous group of genetic diseases characterised by… 
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