Open AccessMultisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature
Author(s) -
Sainan Chen,
Yuqing Wang,
Chuangli Hao,
Yanhong Lu,
Wujun Jiang,
Chunyan Gao,
Min Wu
Publication year - 2019
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v7.i24.4355
Subject(s) - medicine , ductus arteriosus , patent foramen ovale , macrocephaly , cardiology , gene mutation , left pulmonary artery , pulmonary artery , pediatrics , radiology , migraine , mutation , gene , biochemistry , chemistry
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2 ( ACTA2 ) gene p.R179H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature.