AUTHOR=Murtazina Aysylu , Subbotin Dmitrii , Kuchina Anna , Gilvanova Olga , Degterev Daniil , Shchagina Olga , Cherevatova Tatiana , Bulakh Maria , Sherstyukova Darya , Ryzhkova Oksana , Kurushina Olga , Skoblov Mikhail , Borovikov Artem , Kutsev Sergey 

TITLE=Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

JOURNAL=Frontiers in Genetics

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1414928

DOI=10.3389/fgene.2024.1414928

ISSN=1664-8021

ABSTRACT=<p>Recent research has sparked a discussion on the spectrum of diseases linked to the <italic>MATR3</italic> gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM. In this study, we present six patients from four unrelated families affected by VCPDM. Our observations include patients exhibiting both the typical phenotype associated with MATR3-related distal myopathy and rare symptomatic manifestations of the disease. Notably, two cases presented with an asymmetric scapuloperoneal phenotype, leading in one case to an initial misdiagnosis of facioscapulohumeral muscular dystrophy.</p>