Alterations in Muscle Tone lll
Myasthenia Gravis ll: Pathophysiology
Myocarditis II: Clinical Features and Diagnostic Tests
Disorders of the Skeletal Muscle
Cardiomyopathy II: Dilated Cardiomyopathy
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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Carmen Paradas1, Purificacion Gutiérrez Ríos, Eloy Rivas
1Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Recessive TK2 gene mutations usually cause fatal infantile mitochondrial DNA depletion syndromes. This case highlights an adult male with late-onset myopathy and prominent muscle mtDNA deletions, not depletion, suggesting varied disease progression.
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