Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
A Keylock, Y Hong, D Saunders, E Omoyinmi… - Neurology, 2018 - neurology.org
Neurology, 2018•neurology.org
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.
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.
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.
American Academy of Neurology