Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

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Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.

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Q34996571-EDAEF453-2B3B-4C6C-804E-71762DB7FD38 Q50888603-8679099B-B891-4A9E-97BB-9B6BA8A9E9D0

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Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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Clinical features and ryanodin ...... ily with central core disease.

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Clinical features and ryanodin ...... ily with central core disease.

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Clinical features and ryanodin ...... ily with central core disease.

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Clinical features and ryanodin ...... ily with central core disease.

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Clinical features and ryanodin ...... ily with central core disease.

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Clinical features and ryanodin ...... ily with central core disease.

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P1476

Clinical features and ryanodin ...... ily with central core disease.

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P2093

Haijuan Zhao

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Jingmin Wang

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Jiong Qin

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Qionghui Huang

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Xingzhi Chang

http://www.w3.org/2001/XMLSchema#string

Ying Han

http://www.w3.org/2001/XMLSchema#string

Yiwen Jin

http://www.w3.org/2001/XMLSchema#string

Yun Yuan

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P2860

Central core disease: clinical, pathological, and genetic features

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.

A structural model of the pore-forming region of the skeletal muscle ryanodine receptor (RyR1)

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

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.

A new congenital non-progressive myopathy.

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

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

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

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384-388

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scholarly article

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10.1177/0883073812441251

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2012-05-01T00:00:00Z

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22550088

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Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

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P2860

P2860

Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

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P2093

P2860

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P31

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P698