Article
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
European journal of neurology - 1 Aug 2023
Berling Edouard, Verebi Camille, Venturelli Nadia, Vassilopoulos Stéphane, Béhin Anthony, Tard Céline, Michaud Maud, Quiles Rocio Nur Villar, Vicart Savine, Masingue Marion, Carlier Robert-Yves, Romero Norma Beatriz, Lacene Emmanuelle, Leturcq France, Eymard Bruno, Laforêt Pascal, Stojkovic Tanya
Abstract excerpt
BACKGROUND AND PURPOSE: CAV3 gene mutations, mostly inherited as an autosomal dominant trait, cause various skeletal muscle diseases. Clinical presentations encompass proximal myopathy, distal myopathy, or isolated persistent high creatine kinase (CK) with a major overlapping phenotype. METHODS: Twenty-three patients with CAV3 symptomatic mutations, from 16 different families, were included in a retrospective...
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