Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex (Q44990071)

8 December 2017

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title

Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex (English)

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8 December 2017

Lunardi J

1

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8 December 2017

Monnier N

series ordinal

2

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8 December 2017

publication date

1 May 2004

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8 December 2017

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8 December 2017

volume

160

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8 December 2017

issue

5 Pt 2

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8 December 2017

page(s)

S70-7

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Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

8 December 2017

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

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7 January 2021

Assignment of the gene for central core disease to chromosome 19

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

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

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7 January 2021

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

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Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

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Ryanodine receptor mutations in malignant hyperthermia and central core disease

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Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

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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

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7 January 2021

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene

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7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

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7 January 2021

A new congenital non-progressive myopathy

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7 January 2021

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

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7 January 2021

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

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7 January 2021

Malignant hyperthermia and apparent heat stroke

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7 January 2021

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

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7 January 2021

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7 January 2021

Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis

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7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

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7 January 2021

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

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7 January 2021

10.1016/S0035-3787(04)71008-5

Identifiers

DOI

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8 December 2017

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