(Q36275311)

13 August 2017

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

1 reference

hypertrophic cardiomyopathy

13 August 2017

1 reference

Fananapazir L

1

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13 August 2017

Dalakas MC

2

1 reference

13 August 2017

Cyran F

3

1 reference

13 August 2017

Cohn G

4

1 reference

13 August 2017

Epstein ND

5

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13 August 2017

language of work or name

English

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publication date

1 May 1993

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Proceedings of the National Academy of Sciences of the United States of America

13 August 2017

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13 August 2017

90

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13 August 2017

9

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13 August 2017

3993-3997

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Cardiac alpha- and beta-myosin heavy chain genes are organized in tandem

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Data on the distribution of fibre types in thirty-six human muscles. An autopsy study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Oxidative phosphorylation diseases. Disorders of two genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Prognostic determinants in hypertrophic cardiomyopathy. Prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic, and electrophysiological findings

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Expression of rabbit ventricular alpha-myosin heavy chain messenger RNA sequences in atrial muscle

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46432

Voluntary muscle involvement in hypertrophic cardiomyopathy. A study of eleven patients

22 September 2018

1 reference

12 December 2020

Central core disease. Study of a family with five affected generations

1 reference

12 December 2020

Expression of the cardiac ventricular alpha- and beta-myosin heavy chain genes is developmentally and hormonally regulated

1 reference

12 December 2020

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

12 December 2020

Affinity generation of single-stranded DNA for dideoxy sequencing following the polymerase chain reaction

1 reference

12 December 2020

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

12 December 2020

Genetic evidence of dissociation (generational skips) of electrical from morphologic forms of hypertrophic cardiomyopathy

1 reference

12 December 2020

Assignment of the gene for central core disease to chromosome 19

1 reference

12 December 2020

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

12 December 2020

Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Factors affecting movement of F-actin filaments propelled by skeletal muscle heavy meromyosin

1 reference

12 December 2020

Malignant hyperthermia

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.90.9.3993

1 reference

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

8483915

1 reference