(Q33910216)

30 July 2017

0 references

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). (English)

1 reference

Laing early-onset distal myopathy

30 July 2017

1 reference

5

1 reference

30 July 2017

Nigel G Laing

19

1 reference

ORCID Public Data File 2021

author name string

Christopher Meredith

1

1 reference

30 July 2017

Ralf Herrmann

2

1 reference

30 July 2017

Cheryl Parry

3

1 reference

30 July 2017

Khema Liyanage

4

1 reference

30 July 2017

Hayley J Durling

6

1 reference

30 July 2017

Rachael M Duff

7

1 reference

30 July 2017

Kaye Beckman

8

1 reference

30 July 2017

Marianne de Visser

9

1 reference

30 July 2017

Maaike M van der Graaff

10

1 reference

30 July 2017

Peter Hedera

11

1 reference

30 July 2017

John K Fink

12

1 reference

30 July 2017

Elizabeth M Petty

13

1 reference

30 July 2017

Phillipa Lamont

14

1 reference

30 July 2017

Vicki Fabian

15

1 reference

30 July 2017

Leslie Bridges

16

1 reference

30 July 2017

Thomas Voit

17

1 reference

30 July 2017

Frank L Mastaglia

18

1 reference

30 July 2017

language of work or name

English

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publication date

20 August 2004

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

75

1 reference

30 July 2017

4

1 reference

30 July 2017

703-708

1 reference

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

The Genetic Basis for Cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Mapping of a myosin-binding domain and a regulatory phosphorylation site in M-protein, a structural protein of the sarcomeric M band

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Studies of the interaction between titin and myosin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Autosomal dominant distal myopathy: linkage to chromosome 14.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Infantile autosomal dominant distal myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Predicting coiled coils from protein sequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Tibial muscular dystrophy in a Belgian family

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 8-10th March 2002 in Naarden, The Netherlands.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182058

Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle

29 October 2018

1 reference

12 December 2020

Early onset chromosome 14-linked distal myopathy (Laing)

1 reference

12 December 2020

Positional cloning moves from perditional to traditional

1 reference

12 December 2020

New developments in hereditary inclusion body myopathies

1 reference

12 December 2020

Autosomal dominant distal myopathy not linked to the known distal myopathy loci

1 reference

12 December 2020

Genetic linkage of Welander distal myopathy to chromosome 2p13

1 reference

12 December 2020

The direction of microsatellite mutations is dependent upon allele length

1 reference

12 December 2020

An autosomal dominant early adult-onset distal muscular dystrophy

1 reference

12 December 2020

1 reference

12 December 2020

The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis

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

Identifiers

DOI

10.1086/424760

1 reference

release_m5oh4oxrjrfynaun6rbmlpfptm

30 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/m5oh4oxrjrfynaun6rbmlpfptm

24 November 2022

mapped directly with Wikidata item

PMCID

1182058

1 reference

30 July 2017

1 reference