(Q50638980)

17 March 2018

title

Cardiac manifestations of congenital fiber-type disproportion myopathy. (English)

1 reference

17 March 2018

congenital fiber-type disproportion

main subject

1 reference

B L Banwell

1

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17 March 2018

L E Becker

2

1 reference

17 March 2018

V Jay

3

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17 March 2018

G P Taylor

4

1 reference

17 March 2018

J Vajsar

5

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17 March 2018

publication date

1 February 1999

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17 March 2018

Journal of Child Neurology

published in

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17 March 2018

volume

14

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17 March 2018

issue

2

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17 March 2018

page(s)

83-87

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17 March 2018

Congenital fibre type disproportion myopathy. A histological diagnosis with an uncertain clinical outlook

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Clinical variability in congenital fiber type disproportion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Early predictors of poor outcome in congenital fiber-type disproportion myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Dilated cardiomyopathy and the dystrophin gene: an illustrated review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Congenital fibre type disproportion with unusual clinico-pathologic manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Mutation of dystrophin gene and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400205

10.1177/088307389901400205

21 January 2018

Identifiers

DOI

1 reference

17 March 2018

release_nkdprfpq5rhvtnuzgd7jxqdfhq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nkdprfpq5rhvtnuzgd7jxqdfhq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 March 2018