关键词: COLQ SNP-array clinical exome sequencing congenital myasthenic syndrome
Mesh : Acetylcholinesterase / genetics Collagen / genetics Consanguinity DNA Copy Number Variations Electroencephalography Electromyography Exons / genetics Female Genetic Association Studies Homozygote Humans Infant Male Muscle Hypotonia / genetics Muscle Proteins / genetics Myasthenic Syndromes, Congenital / diagnosis genetics Pedigree Polymorphism, Single Nucleotide Sequence Deletion Spasms, Infantile / genetics
来 源:
DOI:10.3390/genes11121519
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