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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1414928

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

Provisionally accepted
Aysylu Murtazina Aysylu Murtazina 1*Dmitrii Subbotin Dmitrii Subbotin 1Anna Kuchina Anna Kuchina 1Olga Gilvanova Olga Gilvanova 2Daniil Degterev Daniil Degterev 2Olga Shchagina Olga Shchagina 1Tatiana Cherevatova Tatiana Cherevatova 1Maria Bulakh Maria Bulakh 1Darya Sherstyukova Darya Sherstyukova 1Оksana Ryzhkova Оksana Ryzhkova 1Olga Kurushina Olga Kurushina 3Mikhail Skoblov Mikhail Skoblov 1Artem Borovikov Artem Borovikov 1Sergey Kutsev Sergey Kutsev 1
  • 1 Research Centre for Medical Genetics, Moscow, Moscow Oblast, Russia
  • 2 A.S.Loginov Moscow Clinical Scientific Centre, Moscow, Moscow Oblast, Russia
  • 3 Volgograd State Medical University, Volgograd, Volgograd Oblast, Russia

The final, formatted version of the article will be published soon.

    Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 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.

    Keywords: MATR3, Distal myopathy, scapuloperoneal phenotype, phenotypic variability, FSHD, ALS

    Received: 09 Apr 2024; Accepted: 30 Jul 2024.

    Copyright: © 2024 Murtazina, Subbotin, Kuchina, Gilvanova, Degterev, Shchagina, Cherevatova, Bulakh, Sherstyukova, Ryzhkova, Kurushina, Skoblov, Borovikov and Kutsev. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Aysylu Murtazina, Research Centre for Medical Genetics, Moscow, 115522, Moscow Oblast, Russia

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.