TY - JOUR
T1 - Scoliosis surgery in a patient with "de novo" myosin storage myopathy
AU - Stalpers, Xenia
AU - Verrips, Aad
AU - Braakhekke, Jan
AU - Lammens, Martin
AU - van den Wijngaard, Arthur
AU - Mostert, Adriaan
PY - 2011/11
Y1 - 2011/11
N2 - Myosin storage myopathy is a rare neuromuscular disorder, characterized by subsarcolemmal inclusions exclusively in type I skeletal muscle fibers, known as hyaline bodies. Its clinical spectrum is diverse, as are its modes of inheritance. Myosin storage myopathy, also called hyaline body myopathy, is caused by a pathogenic mutation in the MYH7 gene, encoding for the slow/beta-cardiac myosin heavy chain. We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery.
AB - Myosin storage myopathy is a rare neuromuscular disorder, characterized by subsarcolemmal inclusions exclusively in type I skeletal muscle fibers, known as hyaline bodies. Its clinical spectrum is diverse, as are its modes of inheritance. Myosin storage myopathy, also called hyaline body myopathy, is caused by a pathogenic mutation in the MYH7 gene, encoding for the slow/beta-cardiac myosin heavy chain. We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery.
KW - Myosin storage myopathy
KW - Hyaline body myopathy
KW - Scoliosis surgery
KW - MYH7 gene
U2 - 10.1016/j.nmd.2011.05.005
DO - 10.1016/j.nmd.2011.05.005
M3 - Article
C2 - 21723124
SN - 0960-8966
VL - 21
SP - 812
EP - 815
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 11
ER -