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A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Mendelian DisorderGenetic DisorderMedicinePathologySevere Congenital MyopathyNovel Acta1 MutationNemaline BodiesNeuropathologyNeuromuscular PathologyOrthopaedic SurgeryNeuromusculoskeletal DisorderConnective Tissue Disease