期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 176, 期 1, 页码 151-155出版社
WILEY
DOI: 10.1002/ajmg.a.38515
关键词
choline acetyl-transferase; compound heterozygoty; single nucleotide polymorphisms array; vesicular acetyl-choline transporter
A congenital myasthenia was suspected in two unrelated children with very similar phenotypes including several episodes of severe dyspnea. Both children had a 10q11.2 deletion revealed by Single Nucleotide Polymorphisms array or by Next Generation Sequencing analysis. The deletion was inherited from the healthy mother in the first case. These deletions unmasked a recessive mutation at the same locus in both cases, but in two different genes: CHAT and SLC18A3.
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