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Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11

Keylock, A; Hong, Y; Saunders, D; Omoyinmi, E; Mulhern, C; Roebuck, D; Brogan, P; ... Eleftheriou, D; + view all (2017) Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11. Neurology 10.1212/WNL.0000000000004828. Green open access

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Abstract

Heterozygous mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a contractile protein of smooth muscle cells (SMC), have been described to cause thoracic aortic aneurysm or aortic dissection (TAAD) and patent ductus arteriosus (PDA).1 Herein we expand the phenotype associated with MYH11 mutations to include moyamoya-like cerebrovascular disease.

Type: Article
Title: Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/WNL.0000000000004828
Publisher version: http://dx.doi.org/10.1212/WNL.0000000000004828
Language: English
Additional information: © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Infect, Imm, Infla. and Physio Med
URI: http://discovery.ucl.ac.uk/id/eprint/10041187
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