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myopathie des fibrilles centrales

central core disease

santé - iate.europa.eu

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Sarcomeric, cytoskeletal and extracellular matrix proteins... In all biopsy specimens obtained from patients with central core disease (CCD), nemaline myopathy (NM), X-linked myotubular myopathy (XLMTM) and centronuclear myopathy (CNM), disease-specific desmin disturbances were observed....

santé - core.ac.uk - PDF: digitalarchive.maastrichtuniversity.nl

Publications scientifiques

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Single fibre electromyography in central core diseaseSingle fibre electromyography in the extensor digitorum communis muscle was studied in five patients with central core disease....

général - core.ac.uk - PDF: www.pubmedcentral.nih.gov

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Late components of motor unit potentials in central core diseaseSUMMARY Electromyographic studies in five patients suffering from central core disease are presented....

général - core.ac.uk - PDF: jnnp.bmj.com

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Refined genetic localization for central core diseaseCentral core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS)....

général - core.ac.uk - PDF: www.pubmedcentral.nih.gov

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Brief communication clinical features and ryanodine receptor type 1 gene mutation analysis in a chinese family with central core diseaseCentral core disease is a rare inherited neuromuscular disorder caused by mutations in ryanodine receptor type 1 gene....

général - core.ac.uk - PDF: jcn.sagepub.com