Article
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Neurology - 9 Mar 2021
Natera-de Benito Daniel, Foley A Reghan, Domínguez-González Cristina, Ortez Carlos, Jain Minal, Mebrahtu Aron, Donkervoort Sandra, Hu Ying, Fink Margaret, Yun Pomi, Ogata Tracy, Medina Julita, Vigo Meritxell, Meilleur Katherine G, Leach Meganne E, Dastgir Jahannaz, Díaz-Manera Jordi, Carrera-García Laura, Expósito-Escudero Jessica, Alarcon Macarena, Cuadras Daniel, Montiel-Morillo Elena, Milisenda José C, Dominguez-Rubio Raul, Olivé Montse, Colomer Jaume, Jou Cristina, Jimenez-Mallebrera Cecilia, Bönnemann Carsten G, Nascimento Andres
Abstract excerpt
OBJECTIVE: To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to improve clinical trial readiness. METHODS: This retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary...
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