MYL1 Intron

Maria Barington1, Marie Balslev-Harder1, Thomas Krag2

  • 1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

概括

先天性肌肉病-14 (CMYO14),一种罕见的遗传疾病,在一个新生儿中被发现患有严重的低血压和呼吸系统问题. 这一案例突出了MYL1基因中的新型内突变,扩大了CMYO14已知的遗传原因.

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