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.
Preview |
Text
WNL.0000000000004828.full.pdf - Published Version Download (221kB) | Preview |
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.
Archive Staff Only
 |
View Item |
