Autosomal dominant myopathy: missense mutation (Glu-706 --&gt; Lys) in the myosin heavy chain IIa gene (Q24684848)

2

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N Darin

3

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K Berg

4

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H Tajsharghi

5

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M Kyllerman

6

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J Wahlstrom

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

7

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language of work or name

English

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publication date

19 December 2000

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published in

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volume

97

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issue

26

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page(s)

14614-9

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Three-dimensional structure of myosin subfragment-1: a molecular motor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Familial hypertrophic cardiomyopathy: from mutations to functional defects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

7 April 2017

Inclusion body myositis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Inherited disorders of sarcomeric proteins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Growth and Muscle Defects in Mice Lacking Adult Myosin Heavy Chain Genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Structure-function analysis of the motor domain of myosin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Mammalian skeletal muscle fiber type transitions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Progressive resistance training reduces myosin heavy chain coexpression in single muscle fibers from older men.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Conservation within the myosin motor domain: implications for structure and function

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Bed rest increases the amount of mismatched fibers in human skeletal muscle

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18967

Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles

28 November 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Genetics of inclusion body myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Electrophoretic analysis of myosin heavy chain isoform patterns in extraocular muscles of the rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Point mutations in human beta cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Increase in the degree of coexpression of myosin heavy chain isoforms in skeletal muscle fibers of the very old

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Myosin heavy chain isoforms in single fibres from m. vastus lateralis of soccer players: effects of strength-training

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Sarcomeric myosin heavy chain is degraded by the proteasome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Proteasomes in distal myopathy with rimmed vacuoles

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.250289597

Analysis of location and integrity of the human PITSLRE (p58(cdc2L1)) genes in neuroblastoma cell genomes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11114175

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.250289597

1 reference

ADS bibcode

2000PNAS...9714614M

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1 reference

1 reference

PubMed publication ID

11114175

1 reference