Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

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作者： William Z,Blackstone ^[1] ; Seth E,Malaguit ^[1] ; Natalie S,Shwaish ^[2] ; Erik L,Frandsen ^[2]

作者单位： Loma Linda University School of Medicine, Loma Linda, CA, USA. ^[1] Loma Linda Children's Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA. ^[2]

关键词 DMD Duchenne muscular dystrophy McLeod neuroacanthocytosis syndrome Xp21 cardiomyopathy contiguous gene deletion syndrome

主题词人类(Humans);肌营养不良, 杜氏(Muscular Dystrophy, Duchenne);男(雄)性(Male);神经棘红细胞增多症(Neuroacanthocytosis);致命性结局(Fatal Outcome);心肌病, 扩张型(Cardiomyopathy, Dilated);肌营养不良蛋白(Dystrophin);染色体, 人, X(Chromosomes, Human, X);疾病恶化(Disease Progression);染色体缺失(Chromosome Deletion);心肌疾病(Cardiomyopathies);儿童(Child);氨基酸转运系统, 中性(Amino Acid Transport Systems, Neutral)

DOI 10.1017/S1047951124036370

PMID 39749981

发布时间 2025-02-07

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Cardiology in the young

2025年35卷2期

358-360页

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Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Cardiology in the young

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Cardiology in the young

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Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Cardiology in the young

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Cardiology in the young

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