Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum (Q36870145)

16 August 2017

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum (English)

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16 August 2017

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Diana Xerxes Bharucha-Goebel

1

1 reference

16 August 2017

Mariarita Santi

2

1 reference

16 August 2017

Livija Medne

3

1 reference

16 August 2017

Kristen Zukosky

4

1 reference

16 August 2017

Jahannaz Dastgir

5

1 reference

16 August 2017

Perry B Shieh

6

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16 August 2017

Thomas Winder

7

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16 August 2017

Gihan Tennekoon

8

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16 August 2017

Richard S Finkel

9

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16 August 2017

James J Dowling

10

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16 August 2017

Nicole Monnier

11

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16 August 2017

Carsten G Bönnemann

12

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16 August 2017

language of work or name

English

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publication date

3 April 2013

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16 August 2017

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16 August 2017

80

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16 August 2017

17

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16 August 2017

1584-1589

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

16 August 2017

1 reference

Centronuclear myopathies: a widening concept

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Mutations in RYR1 in malignant hyperthermia and central core disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Central core disease is due to RYR1 mutations in more than 90% of patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

What's new in neuromuscular disorders? The congenital myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

RYR1 mutations are a common cause of congenital myopathies with central nuclei

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

The spectrum of pathology in central core disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662324

Congenital myopathies in the new millennium

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553484

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553484

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553484

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182900380

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23553484

1 reference