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Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.

作者信息

Waldrop Megan A, Boue Daniel R, Sites Emily, Flanigan Kevin M, Shell Richard

机构信息

The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, The Ohio State University, Columbus, Ohio; Department of Neurology, The Ohio State University, Columbus, Ohio.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.

出版信息

Pediatr Neurol. 2017 Sep;74:11-14. doi: 10.1016/j.pediatrneurol.2017.01.026. Epub 2017 Feb 4.

DOI:10.1016/j.pediatrneurol.2017.01.026
PMID:28676249
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5544583/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b2/5544583/4e37b027ba98/nihms849765f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b2/5544583/b2d7147f7cd8/nihms849765f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b2/5544583/4e37b027ba98/nihms849765f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b2/5544583/b2d7147f7cd8/nihms849765f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b2/5544583/4e37b027ba98/nihms849765f2.jpg

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本文引用的文献

1
Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation.Stac3在骨骼肌型兴奋-收缩偶联中起直接作用，该作用会因一种导致肌病的突变而受到破坏。
Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10986-91. doi: 10.1073/pnas.1612441113. Epub 2016 Sep 12.
2
Current and future therapeutic approaches to the congenital myopathies.先天性肌病的当前和未来治疗方法。
Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8.
3
Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice.
兴奋-收缩偶联缺陷是导致Stac3基因敲除小鼠后肢肌肉收缩力受损的部分原因。
Sci Rep. 2016 May 17;6:26194. doi: 10.1038/srep26194.
4
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.66例Pierre Robin序列征患者的临床、细胞遗传学及分子学转归并文献综述：22q11.2缺失比其他染色体异常少见。
Am J Med Genet A. 2016 Apr;170A(4):870-80. doi: 10.1002/ajmg.a.37538. Epub 2016 Jan 12.
5
Malignant hyperthermia: a review.恶性高热：综述
Orphanet J Rare Dis. 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1.
6
Multiple phenotypes in phosphoglucomutase 1 deficiency.磷酸葡糖变位酶 1 缺乏症的多种表型。
N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.
7
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.Stac3 是兴奋-收缩偶联机制的一个组成部分，在美洲原住民肌病中发生突变。
Nat Commun. 2013;4:1952. doi: 10.1038/ncomms2952.
8
Congenital fiber-type disproportion.先天性纤维类型比例失调。
Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008.
9
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.在美洲原住民印第安人中于12q13.13 - 14.1发现的新型先天性肌病基因座。
Neurology. 2008 Nov 25;71(22):1764-9. doi: 10.1212/01.wnl.0000325060.16532.40. Epub 2008 Oct 8.
10
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.美洲原住民肌病：伴有腭裂、骨骼异常及恶性高热易感性的先天性肌病。
Am J Med Genet A. 2008 Jul 15;146A(14):1832-41. doi: 10.1002/ajmg.a.32370.