Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement - Archive ouverte HAL Access content directly
Journal Articles Muscle & Nerve Year : 2018

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Ivana Dabaj
  • Function : Author
Robert Carlier
  • Function : Author
David Gomez-Andres
  • Function : Author
Osório Neto
  • Function : Author
Enrico Bertini
  • Function : Author
Adele d'Amico
Fabiana Fattori
Yann Pereon
  • Function : Author
Claudia Castiglioni
  • Function : Author
Elliena Rodillo
  • Function : Author
Michela Catteruccia
  • Function : Author
Julio Guimaraes
  • Function : Author
Acary Oliveira
  • Function : Author
Umbertina Reed
  • Function : Author
Lilia Mesrob
  • Function : Author
Doris Lechner
  • Function : Author
Anne Boland
Jean-François Deleuze
Edoardo Malfatti
  • Function : Author
Carsten Bonnemann
  • Function : Author
Norma Romero
  • Function : Author
Adrien Felter
  • Function : Author
Susana Quijano-Roy
  • Function : Author
Cristiane Moreno
  • Function : Author
Edmar Zanoteli
  • Function : Author

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.
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Dates and versions

hal-03670930 , version 1 (17-05-2022)

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Ivana Dabaj, Robert Carlier, David Gomez-Andres, Osório Neto, Enrico Bertini, et al.. Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. Muscle & Nerve, 2018, 58 (2), pp.224-234. ⟨10.1002/mus.26137⟩. ⟨hal-03670930⟩
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