Ivana Dabaj1, Robert Y Carlier2, David Gómez-Andrés3, Osório Abath Neto4, Enrico Bertini5, Adele D'amico5, Fabiana Fattori5, Yann PéRéon2,6, Claudia Castiglioni7, Eliana Rodillo7, Michela Catteruccia5, Júlio Brandão Guimarães8, Acary Souza Bulle Oliveira9, Umbertina Conti Reed10, Lilia Mesrob11, Doris Lechner11, Anne Boland11, Jean-François Deleuze11, Edoardo Malfatti2,12, Carsten Bonnemann4, Jocelyn Laporte13, Norma Romero2,12, Adrien Felter2, Susana Quijano-Roy1, Cristiane Araújo Martins Moreno10, Edmar Zanoteli10. 1. APHP, Service de Pediatrie, Pôle Neuro-locomoteur, Hôpital 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, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France. 3. Child Neurology Unit, Hospital Universitari Vall d'Hebron, ERN-RND / ERN-NMD. Vall d'Hebron Institut de Recerca, Barcelona, Spain, Barcelona, Spain. 4. Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA. 5. Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy. 6. Centre de reference de maladies neuromusculaires Nantes-Angers, Hôtel-Dieu, CHU Nantes, France. 7. Department of Pediatric, Neurology Unit, Clínica Las Condes, Santiago, Chile. 8. Department of Radiology, DASA Laboratory, São Paulo, Brazil. 9. Departamento de Neurologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. 10. Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. 11. Centre National de Génotypage, Institut de Génomique, CEA, Evry, France. 12. Laboratoire de Pathologie musculaire, Institut de Myologie, Paris, France. 13. 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.
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.
Authors: Ingrid Bader; M Freilinger; F Landauer; S Waldmüller; W Mueller-Felber; C Rauscher; W Sperl; R E Bittner; W M Schmidt; J A Mayr Journal: Orphanet J Rare Dis Date: 2022-07-19 Impact factor: 4.303
Authors: Marco Savarese; Jaakko Sarparanta; Anna Vihola; Per Harald Jonson; Mridul Johari; Salla Rusanen; Peter Hackman; Bjarne Udd Journal: Acta Myol Date: 2020-12-01