Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

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Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

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2017年學術文章

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Clinical and Pathologic Findin ...... 1-Related Congenital Myopathy.

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Clinical and Pathologic Findin ...... 1-Related Congenital Myopathy.

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Clinical and Pathologic Findin ...... 1-Related Congenital Myopathy.

@en

Clinical and Pathologic Findin ...... 1-Related Congenital Myopathy.

@nl

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Clinical and Pathologic Findin ...... 1-Related Congenital Myopathy.

@en

Clinical and Pathologic Findin ...... 1-Related Congenital Myopathy.

@nl

P1476

Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy

@en

P2093

Hyung Jun Park

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Jung Hwan Lee

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Se Hoon Kim

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Seung Min Kim

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P2860

Approach to the diagnosis of congenital myopathies

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region

Congenital myopathies: Natural history of a large pediatric cohort.

Genotype-phenotype correlations in recessive RYR1-related myopathies.

A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy

[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].

P304

58-65

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P31

scholarly article

P356

10.3988/JCN.2018.14.1.58

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P433

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P478

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P50

Ha Young Shin

Young-Chul Choi

Ha Neul Jeong

P577

2018-01-01T00:00:00Z

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P698

29629541

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P932

5765257

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