Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy (Q74432097)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525884 AND SRC:MED&resulttype=core&format=json

10 November 2019

title

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525884 AND SRC:MED&resulttype=core&format=json

limb-girdle muscular dystrophy

10 November 2019

main subject

1 reference

J Chae

1

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10 November 2019

N Minami

2

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10 November 2019

Y Jin

3

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10 November 2019

M Nakagawa

4

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10 November 2019

K Murayama

5

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10 November 2019

F Igarashi

6

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10 November 2019

I Nonaka

7

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10 November 2019

publication date

1 September 2001

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10 November 2019

published in

Neuromuscular Disorders

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10 November 2019

volume

11

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10 November 2019

issue

6-7

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10 November 2019

page(s)

547-555

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On the classification, natural history and treatment of the myopathies

10 November 2019

cites work

1 reference

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7 January 2021

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

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7 January 2021

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

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

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

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7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

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7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

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7 January 2021

A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus

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7 January 2021

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

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7 January 2021

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

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7 January 2021

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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7 January 2021

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

1 reference

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7 January 2021

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

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7 January 2021

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

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7 January 2021

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan

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7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

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7 January 2021

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

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7 January 2021

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

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7 January 2021

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

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7 January 2021

Lobulated fibers in neuromuscular diseases

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7 January 2021

Limb-girdle muscular dystrophy: clinical and pathologic reevaluation

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7 January 2021

Myopathy with trabecular muscle fibers

1 reference

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7 January 2021

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

1 reference

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7 January 2021

Muscle fiber degeneration and necrosis in muscular dystrophy and other muscle diseases: cytochemical and immunocytochemical data

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7 January 2021

10.1016/S0960-8966(01)00197-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525884 AND SRC:MED&resulttype=core&format=json

10 November 2019

1 reference