Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. (Q37889772)

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4 February 2020

review article

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title

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms (English)

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4 February 2020

1

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4 February 2020

Jorge Oliveira

2

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4 February 2020

Rosário Santos

3

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4 February 2020

Isabel Conceição

6

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4 February 2020

Teresinha Evangelista

7

object named as

Teresinha Evangelista

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4 February 2020

author name string

Pedro Pereira

4

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Cândida Barroso

5

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publication date

1 July 2011

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4 February 2020

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volume

44

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issue

1

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page(s)

102-108

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Mutations in RYR1 in malignant hyperthermia and central core disease

4 February 2020

cites work

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Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

1 reference

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

21 January 2018

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

21 January 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

21 January 2018

1 reference

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

21 January 2018

1 reference

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

21 January 2018

1 reference

Severe multicore disease associated with reaction to anesthesia

21 January 2018

1 reference

21 January 2018

Multi-minicore Disease

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Myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy.

21 January 2018

1 reference

Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene

21 January 2018

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

21 January 2018

1 reference

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

Multicore disease: report of a case with onset in middle age.

21 January 2018

1 reference

Central core disease: clinical, pathological, and genetic features

21 January 2018

1 reference

The spectrum of pathology in central core disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Amino acids 1-1,680 of ryanodine receptor type 1 hold critical determinants of skeletal type for excitation-contraction coupling. Role of divergence domain D2.

21 January 2018

1 reference

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing

21 January 2018

1 reference

Novel repeats in ryanodine and IP3 receptors and protein O-mannosyltransferases

21 January 2018

1 reference

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

21 January 2018

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Characterization of recessive RYR1 mutations in core myopathies

21 January 2018

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

21 January 2018

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