Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

doi:10.1016/j.nmd.2023.02.007

Article

Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

Neuromuscular disorders : NMD - 1 Apr 2023

Llansó Laura, Moore Ursula, Bolano-Diaz Carla, James Meredith, Blamire Andrew M, Carlier Pierre G, Rufibach Laura, Gordish-Dressman Heather, Boyle Georgina, Hilsden Heather, 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, Mendell Jerry R, Straub Volker, Díaz-Manera Jordi

Abstract excerpt

Dysferlinopathy is a muscle disease characterized by a variable clinical presentation and is caused by mutations in the DYSF gene. The Jain Clinical Outcome Study for Dysferlinopathy (COS) followed the largest cohort of patients (n=187) with genetically confirmed dysferlinopathy throughout a three-year natural history study, in which the patients underwent muscle function tests and muscle magnetic resonance...

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Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

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