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Updated: Nov 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the

Daniel Sánchez-Tejerina1, Luísa Panadés-de Oliveira2, Miguel A Martín1

  • 1From the Neuromuscular Disorders Unit (C.D.-G.), Department of Neurology (D.S.-T., L.P., C.D.-G.), Laboratory of Mitochondrial Diseases, Department of Biochemistry, Instituto de Investigación (M.A.M.), and Departments of Clinical Genetics (M.I.Á.-M.) and Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.A.M., C.D.-G.), Instituto de Salud Carlos III, Madrid; Department of Biochemistry and Molecular Genetics (M.I.Á.-M.), Hospital Clínic of Barcelona; and Hospital 12 de Octubre Research Institute (imas12) (C.D.-G.), Madrid, Spain.

Neurology
|April 10, 2021
PubMed
Abstract

No abstract available in PubMed .

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