在非-5q脊柱肌肉缩中表现型呈现和分子诊断收益率

Gorka Fernández-Eulate¹, Julian Theuriet¹, Christopher J Record¹+20

• ¹From the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.