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Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

Archive ouverte | Neto, Osorio, Abath | CCSD

International audience. Inherited myopathies are a heterogeneous group of disabling disorders with still barely understood pathological mechanisms. Around 40% of afflicted patients remain without a molecular diagnos...

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

Archive ouverte | Abath Neto, Osorio | CCSD

International audience. Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging...

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Archive ouverte | Dabaj, Ivana | CCSD

INTRODUCTION: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. METHODS: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 wit...

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