| Affiliation: | 1. APHP, Service de Pediatrie, P?le Neuro‐locomoteur, H?pital Universitaire Raymond Poincaré‐Garches, Centre de Reference de Maladies Neuromusculaires Centre de référence des maladies neuromusculaires Nord/Est/Ile de, France;2. APHP, Service d'Imagerie Médicale, P?le Neuro‐locomoteur, H?pital Universitaire Raymond Poincaré‐Garches;3. Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France;4. Child Neurology Unit, Hospital Universitari Vall d'Hebron, ERN‐RND / ERN‐NMD. Vall d'Hebron Institut de Recerca, Barcelona, Spain, Barcelona, Spain;5. Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA;6. Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy;7. Centre de reference de maladies neuromusculaires Nantes‐Angers, H?tel‐Dieu, CHU Nantes, France;8. Department of Pediatric, Neurology Unit, Clínica Las Condes, Santiago, Chile;9. Department of Radiology, DASA Laboratory, S?o Paulo, Brazil;10. Departamento de Neurologia, Universidade Federal de S?o Paulo (UNIFESP), S?o Paulo, Brazil;11. Departamento de Neurologia, Faculdade de Medicina da Universidade de S?o Paulo (FMUSP), S?o Paulo, Brazil;12. Centre National de Génotypage, Institut de Génomique, CEA, Evry, France;13. Laboratoire de Pathologie musculaire, Institut de Myologie, Paris, France;14. Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France |
| Abstract: | 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 with mosaicism and 3 with novel missense mutations. Results: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying some type of core pathology, including minicores and eccentric cores. Most patients demonstrated internal bands of infiltration (“inverted‐collagen‐VI sign”) in multiple muscles, particularly the soleus, and prominent atrophy and fatty infiltration of the tongue and the paraspinal, gluteus minimus, sartorius, gracilis, tibialis anterior, and extensor digitorum longus muscles. Discussion: Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7‐related myopathies and other axial myopathies such as those related to SEPN1 and LMNA genes. Muscle Nerve 58 : 224–234, 2018 |
