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Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement
Author(s) -
Dabaj Ivana,
Carlier Robert Y,
GómezAndrés David,
Neto Osório Abath,
Bertini Enrico,
D'amico Adele,
Fattori Fabiana,
PéRéon Yann,
Castiglioni Claudia,
Rodillo Eliana,
Catteruccia Michela,
Guimarães júlio Brandão,
Oliveira Acary Souza Bulle,
Reed Umbertina Conti,
Mesrob Lilia,
Lechner Doris,
Boland Anne,
Deleuze JeanFrançois,
Malfatti Edoardo,
Bonnemann Carsten,
Laporte Jocelyn,
Romero Norma,
Felter Adrien,
QuijanoRoy Susana,
Moreno Cristiane Araújo Martins,
Zanoteli Edmar
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26137
Subject(s) - myh7 , myopathy , anatomy , muscle biopsy , pathology , medicine , atrophy , biopsy , biology , actin , genetics , myosin light chain kinase
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