关键词: 先天性肌无力, 喉鸣, COLQ基因, 儿童

Abstract: The patient,male,who was born 21 h before,was admitted to the hospital due to abnormal voice for 17 h.No special treatment was given after admission,and relevant auxiliary examinations were completed without showing any abnormalities.The patient was on breastfeeding normally and had a good reaction.The throat sounds disappeared before being discharged.After discharge,the patient experienced recurrent respiratory distress.Further whole-exon genetic testing showed that there were 2 heterozygous mutations of COLQ gene:heterozygous mutation of c.806dup and heterozygous mutation of c.706del,which was decided to be pathogenetic variation.The disease associated with it is congenital myasthenia syndrome type 5,belonging to autosomal recessive inheritance.

Key words:

Congenital myasthenia, Laryngeal wheezing, COLQ gene, Child