先天性重症肌无力：对两兄弟的临床及人类白细胞抗原研究

Whiteley A M, Schwartz M S, Sachs J A, Swash M

J Neurol Neurosurg Psychiatry. 1976 Dec;39(12):1145-50. doi: 10.1136/jnnp.39.12.1145.

Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.

本文描述了两例患有先天性重症肌无力的兄弟。在这两例患者中，上睑下垂和眼肌麻痹对口服抗胆碱酯酶治疗及胸腺切除术反应不佳。这两兄弟具有两种不同的HLA单倍型，且均不具有在成人发病型重症肌无力中通常与之相关的HLA - A1 - B8 - DW3单倍型。