Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization (Q42681353)

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scientific article published on April 1, 2011

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English	Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization	scientific article published on April 1, 2011

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Europe PubMed Central

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4 November 2017

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization (English)

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4 November 2017

congenital disorder

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congenital myopathy

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Jorge A Bevilacqua

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Kristl G Claeys

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Pascale Guicheney

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N. Monnier

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B. Eymard

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S. Monges

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N. B. Romero

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publication date

1 April 2011

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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1365-2990.2010.01149.x

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10.1111/J.1365-2990.2010.01149.X

https://api.crossref.org/works/10.1111/J.1365-2990.2010.01149.X

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http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2990.2010.01149.x/fullpdf

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10.1111/J.1365-2990.2010.01149.X

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Neuropathology and Applied Neurobiology

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4 November 2017

37

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Europe PubMed Central

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3

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271-284

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Europe PubMed Central

PubMed publication ID

4 November 2017

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

1 reference

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21 January 2018

Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, The Netherlands.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

The spectrum of pathology in central core disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Pathological defects in congenital myopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

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21 January 2018

Mutations in dynamin 2 cause dominant centronuclear myopathy

1 reference

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21 January 2018

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

1 reference

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21 January 2018

Centronuclear myopathies: a widening concept

1 reference

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"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

1 reference

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21 January 2018

Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Increasing the number of diagnostic mutations in malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Characterization of recessive RYR1 mutations in core myopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01149.X

21 January 2018

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

9

1 reference

10.1111/J.1365-2990.2010.01149.X

https://api.crossref.org/works/10.1111/J.1365-2990.2010.01149.X

23 August 2024

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

14

1 reference

10.1111/J.1365-2990.2010.01149.X

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23 August 2024

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

35

1 reference

10.1111/J.1365-2990.2010.01149.X

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23 August 2024

Identifiers

10.1111/J.1365-2990.2010.01149.X

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

ResearchGate publication ID

0 references

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