Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.
第一作者:
Jamie I,Verhoeven
第一单位:
From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands.
作者:
医学主题词
成年人(Adult);儿童(Child);人类(Humans);延迟诊断(Delayed Diagnosis);突变(Mutation);肌疾病(Muscular Diseases);动作障碍(Movement Disorders);步态(Gait);先天性肌强直(Myotonia Congenita)
DOI
10.1212/WNL.0000000000209164
PMID
38373275
发布时间
2026-06-11
- 浏览3
Neurology
e209164页
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