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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- 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
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
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