Article
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle & nerve - 1 May 2022
Moore Ursula, Fernandez-Torron Roberto, Jacobs Marni, Gordish-Dressman Heather, Diaz-Manera Jordi, James Meredith K, Mayhew Anna G, Harris Elizabeth, Guglieri Michela, Rufibach Laura E, Feng Jia, Blamire Andrew M, Carlier Pierre G, Spuler Simone, Day John W, Jones Kristi J, Bharucha-Goebel Diana X, Salort-Campana Emmanuelle, Pestronk Alan, Walter Maggie C, Paradas Carmen, Stojkovic Tanya, Mori-Yoshimura Madoka, Bravver Elena, Pegoraro Elena, Lowes Linda Pax, Mendell Jerry R, Bushby Kate, Bourke John, Straub Volker
Abstract excerpt
INTRODUCTION/AIMS: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype. METHODS: As part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and...
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