Article
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.
European journal of neurology - 1 Apr 2025
Bisciglia Michela, Severa Gianmarco, Romero Norma Beatriz, Fardeau Michel, Rendu John, Stojkovic Tanya, Laforêt Pascal, Eymard Bruno, Ferreiro Ana, Malfatti Edoardo, Béhin Anthony
Abstract excerpt
BACKGROUND: Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non-progressive muscle weakness. The phenotypic spectrum is wide, ranging from severe early onset forms to milder and later onset conditions. Data regarding the disease trajectory of CMyo in adult...
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