Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene (Q31882196)

4 July 2017

title

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene (English)

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4 July 2017

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11

Muntoni F

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Jungbluth H

1

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Sewry CA

2

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Brown SC

3

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Nowak KJ

4

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Laing NG

5

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Wallgren-Pettersson C

6

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Pelin K

7

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Manzur AY

8

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Mercuri E

9

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Dubowitz V

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language of work or name

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1 January 2001

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4 July 2017

published in

Neuromuscular Disorders

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4 July 2017

volume

11

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issue

1

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4 July 2017

page(s)

35-40

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

4 July 2017

cites work

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7 January 2021

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Congenital myopathy with excess of thin myofilaments

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy

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7 January 2021

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Characterisation of missense mutations in the Act88F gene of Drosophila melanogaster

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

A nonsense mutation within the act88F actin gene disrupts myofibril formation in Drosophila indirect flight muscles

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900167-X

7 January 2021

Functional and ultrastructural effects of a missense mutation in the indirect flight muscle-specific actin gene of Drosophila melanogaster.

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7 January 2021

10.1016/S0960-8966(00)00167-X

Identifiers

DOI

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4 July 2017

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