作者:
D,Safka Brozkova [1]
;
T,Stojkovic [2]
;
J,Haberlová [1]
;
R,Mazanec [3]
;
R,Windhager [4]
;
P,Fernandes Rosenegger [4]
;
S,Hacker [4]
;
S,Züchner [5]
;
A,Kochański [6]
;
S,Leonard-Louis [7]
;
B,Francou [8]
;
P,Latour [9]
;
J,Senderek [10]
;
P,Seeman [1]
;
M,Auer-Grumbach [4]
作者单位:
DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
[1]
Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, APHP, G-H Pitié-Salpêtrière, Paris, France.
[2]
Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
[3]
Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
[4]
Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
[5]
Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
[6]
Unité de Pathologie Neuromusculaire, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, APHP, G-H Pitié-Salpêtrière, Paris, France.
[7]
Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, APHP, Hôpital Kremlin-Bicêtre, Paris, France.
[8]
Service de Biochimie et Biologie Moléculaire Grand Est, CHU de Lyon, GH Est, Bron, France.
[9]
Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany.
[10]
DOI
10.1111/ene.14463
PMID
32757322
发布时间
2024-12-11