一种伴有新型框内缺失的贝思伦肌病的轻度但典型表现：几乎被忽视。 - Suppr

A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in : Almost Overlooked.

作者信息

Wilpert Nina-Maria, Schuelke Markus, Lala Birgit, Weiß Claudia

机构信息

From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy; and Department of Pediatric Radiology (B.L.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Germany.