Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). (Q45125501)

9 December 2017

title

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). (English)

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limb-girdle muscular dystrophy

9 December 2017

main subject

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9

Zatz M

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ORCID Public Data File 2021

9 December 2017

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author name string

Spencer MJ

1

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9 December 2017

Tidball JG

2

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9 December 2017

Anderson LV

3

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9 December 2017

Bushby KM

4

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9 December 2017

Harris JB

5

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9 December 2017

Passos-Bueno MR

6

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9 December 2017

Somer H

7

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9 December 2017

Vainzof M

8

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9 December 2017

publication date

1 March 1997

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Journal of the Neurological Sciences

9 December 2017

published in

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9 December 2017

volume

146

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issue

2

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9 December 2017

page(s)

173-178

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

9 December 2017

cites work

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Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

7 January 2021

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

7 January 2021

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Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

7 January 2021

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The limb-girdle muscular dystrophies--proposal for a new nomenclature.

7 January 2021

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Immunogold localization of the 43-kDa dystroglycan at the plasma membrane in control and dystrophic human muscle

7 January 2021

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

7 January 2021

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Improved diagnosis of Becker muscular dystrophy by dystrophin testing

7 January 2021

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Dystrophinopathy in isolated cases of myopathy in females

7 January 2021

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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

7 January 2021

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Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

7 January 2021

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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

7 January 2021

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Evolutionary origin of a calcium-dependent protease by fusion of genes for a thiol protease and a calcium-binding protein?

7 January 2021

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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

7 January 2021

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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

7 January 2021

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

7 January 2021

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

7 January 2021

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Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

7 January 2021

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Calpains are activated in necrotic fibers from mdx dystrophic mice

7 January 2021

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Increasing complexity of the dystrophin-associated protein complex

7 January 2021

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10.1016/S0022-510X(96)00304-8

7 January 2021

Identifiers

DOI

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9 December 2017

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