Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies (Q35221453)

7 August 2017

title

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies (English)

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7 August 2017

8

Francesco Muntoni

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7 August 2017

3

Heinz Jungbluth

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7 August 2017

Haiyan Zhou

1

1 reference

7 August 2017

Martin Brockington

2

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7 August 2017

David Monk

4

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7 August 2017

Philip Stanier

5

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7 August 2017

Caroline A Sewry

6

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7 August 2017

Gudrun E Moore

7

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7 August 2017

language of work or name

English

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publication date

21 September 2006

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

79

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7 August 2017

issue

5

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7 August 2017

page(s)

859-868

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The emerging science of epigenomics

7 August 2017

cites work

1 reference

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Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

13 July 2018

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Germline epimutation of MLH1 in individuals with multiple cancers

26 September 2018

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An ICE pattern crystallizes

26 September 2018

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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

26 September 2018

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26 September 2018

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Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

26 September 2018

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26 September 2018

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Allelic Variation in Human Gene Expression

26 September 2018

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Central core disease: clinical and pathological evidence of progression within a family

8 December 2018

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Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families

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Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene

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Rapid selection of donor myoblast clones for muscular dystrophy therapy using cell surface expression of NCAM

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Paternal expression of WT1 in human fibroblasts and lymphocytes

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Identifiers

DOI

10.1086/508500

1 reference

7 August 2017

1 reference

7 August 2017

1 reference