Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
European Journal of Neurology2021Vol. 28(6), pp. 2092–2102
Citations Over TimeTop 13% of 2021 papers
Gorka Fernández‐Eulate, Giorgia Querin, U. Moore, Anthony Béhin, Marion Masingue, Guillaume Bassez, Sarah Léonard-Louis, Pascal Laforêt, Thierry Maisonobe, P. Merle, Marco Spinazzi, Guilhem Solé, Thierry Küntzer, A.-L. Bédat-Millet, Emmanuelle Salort‐Campana, Shahram Attarian, Yann Péréon, Léonard Féasson, J. Graveleau, Aleksandra Nadaj‐Pakleza, France Leturcq, Svetlana Gorokhova, Martin Krahn, B. Eymard, Volker Straub, Teresinha Evangelista, Tanya Stojkovic
Abstract
Late-onset dysferlinopathy patients show a higher frequency of atypical presentations, are less severely affected, and show milder dystrophic changes in muscle biopsy.
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