Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies,European Journal of Neurology

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Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies
European Journal of Neurology ( IF 4.5 ) Pub Date : 2020-10-14 , DOI: 10.1111/ene.14592
R Guimarães-Costa ₁ , G Fernández-Eulate ₁ , K Wahbi ₁ , F Leturcq ₂ , E Malfatti ₃ , A Behin ₁ , S Leonard-Louis ₁ , I Desguerre ₄ , C Barnerias ₄ , M C Nougues ₅ , A Isapof ₅ , B Estournet-Mathiaud ₆ , S Quijano-Roy ₆ , A Fayssoil ₇ , D Orlikowski ₈ , B Fauroux ₉ , I Richard ₁₀ , C Semplicini ₁₁ , N B Romero ₁₂ , G Querin ₁ , B Eymard ₁ , P Laforêt ₁₃ , T Stojkovic ₁

Affiliation

Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Department of Biochemistry and Molecular Genetics, Cochin Hospital, Paris, France.
Department of Neurology, APHP, Raymond Poincaré Hospital, Nord-Est/Ile-de-France Neuromuscular Reference Center, Versailles Paris-Saclay, U 1179 INSERM, Versailles Saint-Quentin-en-Yvelines University, Saint-Aubin, France.
Developmental Diseases Clinic, Necker-Enfants Malades Hospital, Paris, France.
Department of Neuropediatrics, Nord-Est/Ile-de-France Neuromuscular Reference Center, Armand-Trousseau Children's Hospital, Paris, France.
Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, APHP Paris-Saclay. UVSQ U1179 INSERM, Garches, France.
Pneumology Intensive Care Unit, Raymond Poincaré Hospital, Paris, France.
Resuscitation Department and Domiciliary Ventilation Unit, Raymond Poincaré Hospital, Paris, France.
Pneumology Department, Armand-Trousseau Children's Hospital, Paris, France.
INTEGRARE, Genethon, Inserm, Evry University, Paris-Saclay University, Evry, France.
Department of Neurosciences, University of Padua, Padua, Italy.
Neuromuscular Morphology Unit, Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Nord-Est/Ile-de-France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Hospital, Garches, France.

To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD‐R3, R4, and R5) and study phenotypic correlations and disease progression.

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