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先天性肌病伴2型肌纤维减少

Congenital myopathy with reduced type 2 muscle fibers

ORPHA:544602疾病

定义 英文原文（暂无中文）

A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.

别名

Congenital myopathy with reduced type II muscle fibers

基本事实

遗传方式
常染色体隐性
发病年龄
产前、新生儿期
患病率
<1 / 1 000 000

相关基因 1

基因名称关联类型
MYL1myosin light chain 1Disease-causing germline mutation(s) (loss of function) in

外部标识与链接

OrphanetOMIM:618414MONDO:0034109ICD-10 G71.2ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）