扩展 DNAJC3 突变的表型：一例除糖尿病和多系统神经退行性变外还伴有甲状腺功能减退的病例。
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
机构信息
Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Institute of Human Genetics, Technische Universität München, München, Germany.
出版信息
Clin Genet. 2017 Nov;92(5):561-562. doi: 10.1111/cge.13069. Epub 2017 Sep 21.
PMID:28940199
Abstract
Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).
摘要
从最初描述的家系的遥远部分鉴定出这位额外的患者（Synofzik 等人，2014 年）证实了 DNAJC3 突变的致病性。除了已知表型（伴有多系统神经退行性病变的糖尿病）之外，甲状腺功能减退症是一个新发现的特征。
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