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

Ivana Dabaj, Robert Y Carlier, David Gómez-Andrés, Osório Abath Neto, Enrico Bertini, Adele D'amico, Fabiana Fattori, Yann PéRéon, Claudia Castiglioni, Eliana Rodillo, Michela Catteruccia, Júlio Brandão Guimarães, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Edoardo Malfatti, Carsten Bonnemann & 6 others Jocelyn Laporte, Norma Romero, Adrien Felter, Susana Quijano-Roy, Cristiane Araújo Martins Moreno, Edmar Zanoteli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)224-234
Number of pages11
JournalMuscle and Nerve
Volume58
Issue number2
DOIs
Publication statusPublished - Aug 2018

Fingerprint

Muscular Diseases
Muscles
Mutation
Mosaicism
Missense Mutation
Tongue
Genes
Atrophy
Skeletal Muscle
Collagen
Pathology
Phenotype
Biopsy

Cite this

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. / Dabaj, Ivana; Carlier, Robert Y; Gómez-Andrés, 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, Jean-François; Malfatti, Edoardo; Bonnemann, Carsten; Laporte, Jocelyn; Romero, Norma; Felter, Adrien; Quijano-Roy, Susana; Moreno, Cristiane Araújo Martins; Zanoteli, Edmar.

In: Muscle and Nerve, Vol. 58, No. 2, 08.2018, p. 224-234.

Research output: Contribution to journalArticle

Dabaj, I, Carlier, RY, Gómez-Andrés, D, Neto, OA, Bertini, E, D'amico, A, Fattori, F, PéRéon, Y, Castiglioni, C, Rodillo, E, Catteruccia, M, Guimarães, JB, Oliveira, ASB, Reed, UC, Mesrob, L, Lechner, D, Boland, A, Deleuze, J-F, Malfatti, E, Bonnemann, C, Laporte, J, Romero, N, Felter, A, Quijano-Roy, S, Moreno, CAM & Zanoteli, E 2018, 'Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement', Muscle and Nerve, vol. 58, no. 2, pp. 224-234. https://doi.org/10.1002/mus.26137
Dabaj, Ivana ; Carlier, Robert Y ; Gómez-Andrés, 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, Jean-François ; Malfatti, Edoardo ; Bonnemann, Carsten ; Laporte, Jocelyn ; Romero, Norma ; Felter, Adrien ; Quijano-Roy, Susana ; Moreno, Cristiane Araújo Martins ; Zanoteli, Edmar. / Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. In: Muscle and Nerve. 2018 ; Vol. 58, No. 2. pp. 224-234.
@article{a51b60e6d8ac408ba3266140f45386a0,
title = "Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement",
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.",
author = "Ivana Dabaj and Carlier, {Robert Y} and David G{\'o}mez-Andr{\'e}s and Neto, {Os{\'o}rio Abath} and Enrico Bertini and Adele D'amico and Fabiana Fattori and Yann P{\'e}R{\'e}on and Claudia Castiglioni and Eliana Rodillo and Michela Catteruccia and Guimar{\~a}es, {J{\'u}lio Brand{\~a}o} and Oliveira, {Acary Souza Bulle} and Reed, {Umbertina Conti} and Lilia Mesrob and Doris Lechner and Anne Boland and Jean-Fran{\cc}ois Deleuze and Edoardo Malfatti and Carsten Bonnemann and Jocelyn Laporte and Norma Romero and Adrien Felter and Susana Quijano-Roy and Moreno, {Cristiane Ara{\'u}jo Martins} and Edmar Zanoteli",
note = "{\circledC} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = "8",
doi = "10.1002/mus.26137",
language = "English",
volume = "58",
pages = "224--234",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

TY - JOUR

T1 - Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

AU - Dabaj, Ivana

AU - Carlier, Robert Y

AU - Gómez-Andrés, David

AU - Neto, Osório Abath

AU - Bertini, Enrico

AU - D'amico, Adele

AU - Fattori, Fabiana

AU - PéRéon, Yann

AU - Castiglioni, Claudia

AU - Rodillo, Eliana

AU - Catteruccia, Michela

AU - Guimarães, Júlio Brandão

AU - Oliveira, Acary Souza Bulle

AU - Reed, Umbertina Conti

AU - Mesrob, Lilia

AU - Lechner, Doris

AU - Boland, Anne

AU - Deleuze, Jean-François

AU - Malfatti, Edoardo

AU - Bonnemann, Carsten

AU - Laporte, Jocelyn

AU - Romero, Norma

AU - Felter, Adrien

AU - Quijano-Roy, Susana

AU - Moreno, Cristiane Araújo Martins

AU - Zanoteli, Edmar

N1 - © 2018 Wiley Periodicals, Inc.

PY - 2018/8

Y1 - 2018/8

N2 - 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.

AB - 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.

U2 - 10.1002/mus.26137

DO - 10.1002/mus.26137

M3 - Article

VL - 58

SP - 224

EP - 234

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 2

ER -