Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

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

P2860

Q49283604-A22F68FC-456D-4932-96DE-DDD58AF93FA0

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Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-my

2014年学术文章

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2014年學術文章

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Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

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Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

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label

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

@en

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

@nl

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Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

@en

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

@nl

P1476

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

@en

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Byung Chan Lim

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

Jin Sook Lee

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Jong-Hee Chae

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Ki Joong Kim

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Sung-Hye Park

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Yong Seung Hwang

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P2860

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

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

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

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

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

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

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

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

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

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

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e88-e91

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scholarly article

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10.1111/PED.12442

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

P478

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P50

Moon-Woo Seong

Sung Wook Park

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2014-12-01T00:00:00Z

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P698

25521991

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Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

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P2860

P2860

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698