Journal article
CLINICAL AND IMAGING HALLMARKS OF THE MYH7-RELATED MYOPATHY WITH SEVERE AXIAL INVOLVEMENT
Muscle & nerve, Vol.58(2), pp.224-234
08/01/2018
DOI: 10.1002/mus.26137
PMID: 29624713
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.
Details
- Title: Subtitle
- CLINICAL AND IMAGING HALLMARKS OF THE MYH7-RELATED MYOPATHY WITH SEVERE AXIAL INVOLVEMENT
- Creators
- Ivana Dabaj - Assistance Publique – Hôpitaux de ParisRobert Y. Carlier - Université Paris-SaclayDavid Gomez-Andres - Vall d'Hebron Institut de RecercaOsorio Abath Neto - Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIHBethesda Maryland USAEnrico Bertini - Boston Children's HospitalAdele D'Amico - Boston Children's HospitalFabiana Fattori - Boston Children's HospitalYann Pereon - Université Paris-SaclayClaudia Castiglioni - Clínica Las CondesEliana Rodillo - Clínica Las CondesMichela Catteruccia - Boston Children's HospitalJulio Brandao Guimaraes - Department of RadiologyDASA LaboratorySão Paulo BrazilAcary Souza Bulle Oliveira - Federal ReserveUmbertina Conti Reed - Universidade de São PauloLilia Mesrob - Centre National de Recherche en Génomique HumaineDoris Lechner - Centre National de Recherche en Génomique HumaineAnne Boland - Centre National de Recherche en Génomique HumaineJean-Francois Deleuze - Centre National de Recherche en Génomique HumaineEdoardo Malfatti - Université Paris-SaclayCarsten Bonnemann - Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIHBethesda Maryland USAJocelyn Laporte - InsermNorma Romero - Université Paris-SaclayAdrien Felter - Université Paris-SaclaySusana Quijano-Roy - Assistance Publique – Hôpitaux de ParisCristiane Araujo Martins Moreno - FMUSP, Dept Neurol, Sao Paulo, BrazilEdmar Zanoteli - Universidade de São Paulo
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.58(2), pp.224-234
- DOI
- 10.1002/mus.26137
- PMID
- 29624713
- NLM abbreviation
- Muscle Nerve
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Publisher
- Wiley
- Number of pages
- 11
- Grant note
- BM1304 / COST Action; European Cooperation in Science and Technology (COST) ZIANS003129 / NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS)
- Language
- English
- Date published
- 08/01/2018
- Academic Unit
- Pathology
- Record Identifier
- 9984277263602771
Metrics
14 Record Views