CHRNA1 유전자변이와 연관된 선천근무력증후군
Congenital Myasthenic Syndrome Related to CHRNA1 Variant
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초록
Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.
Abstract
Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.
참고문헌 (6)
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