Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Background To describe the clinical, pathological, and molecular characteristics of late‐onset (LO) dysferlinopathy patients. Methods Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥30 years, from neuromuscular centers in France and the International...

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Veröffentlicht in:	European journal of neurology 2021-06, Vol.28 (6), p.2092-2102
Hauptverfasser:	Fernández‐Eulate, Gorka, Querin, Giorgia, Moore, Ursula, Behin, Anthony, Masingue, Marion, Bassez, Guillaume, Leonard‐Louis, Sarah, Laforêt, Pascal, Maisonobe, Thierry, Merle, Philippe‐Edouard, Spinazzi, Marco, Solé, Guilhem, Kuntzer, Thierry, Bedat‐Millet, Anne‐Laure, Salort‐Campana, Emmanuelle, Attarian, Shahram, Péréon, Yann, Feasson, Leonard, Graveleau, Julie, Nadaj‐Pakleza, Aleksandra, Leturcq, France, Gorokhova, Svetlana, Krahn, Martin, Eymard, Bruno, Straub, Volker, Evangelista, Teresinha, Stojkovic, Tanya
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Clinical Neurology Creatine Creatine kinase dysferlin Kinases late onset LGMDR2 Life Sciences Life Sciences & Biomedicine muscle pathology Muscles myopathy Necrosis Neurosciences Neurosciences & Neurology Phenotypes Phenotyping Regeneration Science & Technology Signs and symptoms
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Zusammenfassung:	Background To describe the clinical, pathological, and molecular characteristics of late‐onset (LO) dysferlinopathy patients. Methods Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥30 years, from neuromuscular centers in France and the International Clinical Outcome Study for dysferlinopathy (COS). Patients with early‐onset (EO) dysferlinopathy (
ISSN:	1351-5101 1468-1331
DOI:	10.1111/ene.14821