Clinical utility gene card for: nemaline myopathy (Q35969112)

11 August 2017

Clinical utility gene card for: nemaline myopathy (English)

1 reference

11 August 2017

1 reference

Kristen J Nowak

1

1 reference

11 August 2017

Mark R Davis

2

1 reference

11 August 2017

Carina Wallgren-Pettersson

3

1 reference

11 August 2017

Phillipa J Lamont

4

1 reference

11 August 2017

Nigel G Laing

5

1 reference

11 August 2017

18 April 2012

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

20

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11 August 2017

6

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11 August 2017

17

1 reference

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations in TPM3 are a common cause of congenital fiber type disproportion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355270

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

2 October 2017

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Actin mutations are one cause of congenital fibre type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

TPM3 mutation in one of the original cases of cap disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Distal myopathy caused by homozygous missense mutations in the nebulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.70

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

21 January 2018

1 reference

12 December 2020

Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands

1 reference

12 December 2020

A TPM3 mutation causing cap myopathy

1 reference

12 December 2020

Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation

1 reference

12 December 2020

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.70

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

22510848

1 reference