Luisa Paul1,2, Anne Schänzer3, Christel Depienne4

  • 1Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.

概括

爪综合征 (NPS) 涉及LMX1B基因突变. 对NPS患者的肌肉分析没有显示出原发性肌肉疾病,这表明四肢发育问题导致肌肉症状.