The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach (Q73739715)

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6 November 2019

title

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach (English)

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6 November 2019

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3

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6 November 2019

author name string

C Pollitt

1

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6 November 2019

L V Anderson

2

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6 November 2019

K Davison

4

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6 November 2019

A Pyle

5

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6 November 2019

K M Bushby

6

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6 November 2019

publication date

1 April 2001

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6 November 2019

published in

Neuromuscular Disorders

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6 November 2019

volume

11

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6 November 2019

issue

3

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6 November 2019

page(s)

287-296

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

6 November 2019

cites work

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7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

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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

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

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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

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

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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

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

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7 January 2021

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody

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7 January 2021

Calpain-3 deficiency causes a mild muscular dystrophy in childhood

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7 January 2021

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

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7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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7 January 2021

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

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7 January 2021

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

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7 January 2021

10.1016/S0960-8966(00)00197-8

Identifiers

DOI

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6 November 2019

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