Deep phenotyping of an international series of patients with late-onset dysferlinopathy.

Gorka Fernández-EulateGiorgia QuerinUrsula MooreAnthony BehinMarion MasingueGuillaume BassezSarah Leonard-LouisPascal LaforêtThierry MaisonobePhilippe-Edouard MerleMarco SpinazziGuilhem SoléThierry KuntzerAnne-Laure Bedat-MilletEmmanuelle Salort-CampanaShahram AttarianYann PéréonLeonard FeassonJulie GraveleauAleksandra Nadaj-PaklezaFrance LeturcqSvetlana GorokhovaMartin KrahnBruno EymardVolker Straubnull nullTeresinha EvangelistaKristl G Claeys

Published in: European journal of neurology (2021)

Late-onset dysferlinopathy patients show a higher frequency of atypical presentations, are less severely affected, and show milder dystrophic changes in muscle biopsy.

Keyphrases

late onset
early onset
end stage renal disease
ejection fraction
newly diagnosed
peritoneal dialysis
skeletal muscle
patient reported outcomes
ultrasound guided
fine needle aspiration