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Limb-girdle muscular dystrophy type 2A

Known as: Limb-girdle muscular dystrophy type 2, Leyden-Moebius muscular dystrophy, Calpainopathy 
National Institutes of Health

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4 relations
Autosomal recessive inheritanceLimb-girdle muscular dystrophy, type 2EMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S

Broader (1)

Muscular Dystrophies, Limb-Girdle

Papers overview

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2014
2014
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy
Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type… 
2008
2008
Third filament diseases.
The backbone of the third filament system of the sarcomere is the huge titin molecule, spanning from the sarcomeric Z-disc to the… 
Highly Cited
2007
Highly Cited
2007
Limb-girdle muscular dystrophy in the Netherlands: Gene defect identified in half the families
Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans… 
2007
2007
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
OBJECTIVE Calpain-3 deficiency is the most common cause of autosomal-recessive limb girdle muscular dystrophy (LGMD2). The c… 
2006
2006
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive… 
2006
2006
Early onset calpainopathy with normal non‐functional calpain 3 level
Limb girdle muscular dystrophy 2A (LGMD2A), caused by calpain 3 deficiency, is currently diagnosed through the immunodetection of… 
2005
2005
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote… 
1995
1995
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
A gene for a recessive form of limb-girdle muscular dystrophy (LGMD2A) has been localized to chromosome 15. A physical map of the… 
1995
1995
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the… 
1991
1991
Limb girdle muscular dystrophy with autosomal dominant inheritance
We describe a patient suffering from limb‐girdle muscular dystrophy with autosomal dominant inheritance proved by the presence of… 
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