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Limb-girdle muscular dystrophy type 2A
Known as:
Limb-girdle muscular dystrophy type 2
, Leyden-Moebius muscular dystrophy
, Calpainopathy
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National Institutes of Health
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Related topics
Related topics
4 relations
Autosomal recessive inheritance
Limb-girdle muscular dystrophy, type 2E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Broader (1)
Muscular Dystrophies, Limb-Girdle
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy
I. Schneider
,
G. Stoltenburg
,
M. Deschauer
,
M. Winterholler
,
F. Hanisch
Acta myologica
2014
Corpus ID: 12187101
Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type…
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2008
2008
Third filament diseases.
B. Udd
Advances in Experimental Medicine and Biology
2008
Corpus ID: 40004645
The backbone of the third filament system of the sarcomere is the huge titin molecule, spanning from the sarcomeric Z-disc to the…
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Highly Cited
2007
Highly Cited
2007
Limb-girdle muscular dystrophy in the Netherlands: Gene defect identified in half the families
A. V. D. Kooi
,
W. Frankhuizen
,
+9 authors
H. Ginjaar
Neurology
2007
Corpus ID: 33318268
Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans…
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2007
2007
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
F. Hanisch
,
C. Müller
,
+5 authors
M. Deschauer
Clinical Neuropathology
2007
Corpus ID: 30336039
OBJECTIVE Calpain-3 deficiency is the most common cause of autosomal-recessive limb girdle muscular dystrophy (LGMD2). The c…
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2006
2006
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
C. Pizzanelli
,
Michelangelo Mancuso
,
+5 authors
Luigi Murri
Neurological Sciences
2006
Corpus ID: 27632973
Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive…
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2006
2006
Early onset calpainopathy with normal non‐functional calpain 3 level
Robert Lanzillo
,
S. Aurino
,
+6 authors
L. Santoro
Developmental Medicine & Child Neurology
2006
Corpus ID: 20751791
Limb girdle muscular dystrophy 2A (LGMD2A), caused by calpain 3 deficiency, is currently diagnosed through the immunodetection of…
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2005
2005
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
A. Starling
,
D. Schlesinger
,
F. Kok
,
M. Passos-Bueno
,
M. Vainzof
,
M. Zatz
Neurology
2005
Corpus ID: 6650820
The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote…
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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.
V. Allamand
,
O. Broux
,
+14 authors
J. Beckmann
American Journal of Human Genetics
1995
Corpus ID: 24741414
A gene for a recessive form of limb-girdle muscular dystrophy (LGMD2A) has been localized to chromosome 15. A physical map of the…
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1995
1995
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
Nuchanard Chiannilkulchal
,
P. Pasturaud
,
Isabelle Richard
,
C. Auffray
,
J. Beckmann
Human Molecular Genetics
1995
Corpus ID: 24740347
Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the…
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1991
1991
Limb girdle muscular dystrophy with autosomal dominant inheritance
G. Marconi
,
A. Pizzi
,
C. G. Arimondi
,
B. Vannelli
Acta Neurologica Scandinavica
1991
Corpus ID: 19986152
We describe a patient suffering from limb‐girdle muscular dystrophy with autosomal dominant inheritance proved by the presence of…
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