Ontology highlight
ABSTRACT:
SUBMITTER: Shen Y
PROVIDER: S-EPMC7176811 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Shen Yanhua Y Wang Bo B Zheng Xia X Zhang Wenwen W Wu Hailan H Hei Mingyan M
Frontiers in pediatrics 20200416
This was a Chinese neonatal congenital myasthenic syndromes case caused by muscle skeletal receptor tyrosine kinase gene mutations, which have not been recorded in the Human Gene Mutation Database. The newborn girl had refractory respiratory failure from birth to death, and failed extubation seven times. She had two heterozygous mutations: a non-sense mutation c.2062C>T (p.Q688X) inherited from father and a missense mutation c.2324T>C (p.F775S) inherited from mother, which was predicted pathogen ...[more]