Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

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Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

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2017 nî lūn-bûn

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2017年学术文章

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2017年学术文章

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Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

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Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

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Item

label

Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

@en

Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

@nl

prefLabel

Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

@en

Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

@nl

P1476

Novel Homozygous Missense Muta ...... is in the Absence of Myopathy.

@en

P2093

Alireza Sedaghat

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Gholam Reza Shariati

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Hamid Galehdari

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Jawaher Zeighami

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Mina Zamani

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Nafi Dilaver

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Neda Mazaheri

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Reza Maroofian

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Tahere Seifi

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P2860

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

Anesthesia for patients with a history of malignant hyperthermia.

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.

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

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

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

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

Postoperative malignant hyperthermia episodes in patients who received "safe" anaesthetics.

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.

P304

25-29

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P31

scholarly article

P356

10.1159/000481897

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P433

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P478

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P577

2017-11-15T00:00:00Z

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P698

29456480

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P932

5803739

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