Clinical utility gene card for: Central core disease.

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A chemical chaperone improves muscle function in mice with a RyR1 mutation.Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

P2860

Q37733865-E4E68816-3FFD-499B-9759-E1B805EB7B2D Q52647770-B5058B85-D511-4F22-97E7-679D5CF4607A

P2860

Clinical utility gene card for: Central core disease.

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http://www.wikidata.org/entity/Q40492722

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

@zh-my

2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Clinical utility gene card for: Central core disease.

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type

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label

Clinical utility gene card for: Central core disease.

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Clinical utility gene card for: Central core disease.

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P1476

Clinical utility gene card for: Central core disease.

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P2093

Clemens R Mueller

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Francesco Muntoni

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

Stephen Abbs

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Suzanne Lillis

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P2860

Central core disease

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

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.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

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

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

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

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

P2888

ejhg.2011.179

P304

155-160

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scholarly article

P356

10.1038/EJHG.2011.179

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P433

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P478

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Heinz Jungbluth

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2011-10-12T00:00:00Z

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51708994

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1013458754

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21989361

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3260933

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Clinical utility gene card for: Central core disease.

about

P2860

P2860

Clinical utility gene card for: Central core disease.

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P1433

P1476

P2093

P2860

P2888

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P356

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P356

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P577

P5875

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