Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.
Department of Pediatric Intensive Care, Istanbul University, Fatih, Istanbul, Turkey, drguntulu@hotmail.com.
Güntülü Sare
GS
Duran
Tuğçe Aksu
TA
Uzunhan
Barış
B
Ekici
Agop
A
Çıtak
Nur
N
Aydınlı
Mine
M
Çalışkan
D000110:Acetylcholinesterase / Q000235:genetics*; D000293:Adolescent; D003094:Collagen / Q000235:genetics*; D005260:Female; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*
D009124:Muscle Proteins; D003094:Collagen; D000110:Acetylcholinesterase; C114027:COLQ protein, human