Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
Motozaki
Y
Y
Komai
K
K
Hirohata
M
M
Asaka
T
T
Ono
K
K
Yamada
M
M
D000328:Adult; D003402:Creatine Kinase; D020022:Genetic Predisposition to Disease; D006639:Histidine / Q000235:genetics; D006801:Humans; D007866:Leg / Q000503:physiopathology*; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation; D009188:Myelitis, Transverse / Q000150:complications / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000201:enzymology* / Q000235:genetics*; D011392:Proline / Q000235:genetics
D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D006639:Histidine; D011392:Proline; D003402:Creatine Kinase