(Q36170462)

12 August 2017

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation (English)

1 reference

arrhythmogenic right ventricular cardiomyopathy

12 August 2017

0 references

myofibrillar myopathy

1 reference

Carola Hedberg

1

1 reference

12 August 2017

Atle Melberg

2

1 reference

12 August 2017

Angelika Kuhl

3

1 reference

12 August 2017

Dieter Jenne

4

1 reference

12 August 2017

Anders Oldfors

5

1 reference

12 August 2017

7 March 2012

1 reference

European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

20

1 reference

12 August 2017

9

1 reference

12 August 2017

984-985

1 reference

A framework for variation discovery and genotyping using next-generation DNA sequencing data

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

1 October 2017

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

Fast and accurate short read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

When contractile proteins go bad: the sarcomere and skeletal muscle disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

Mutations in ZASP define a novel form of muscular dystrophy in humans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421124

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

2 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.39

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22395865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Arrhythmogenic Right Ventricular Cardiomyopathy and Desmin: another gene fits the shoe

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22395865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22395865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.39

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22395865

1 reference