Study of a Russian cohort adds to the phenotypic description of MATR3-linked distal myopathy

Matrin-3 deficiency can give rise to a form of amyotrophic lateral sclerosis (ALS) or distal myopathy with vocal cord paralysis (VCPDM). Russian clinicians report the clinical and biological data of six new patients from four unrelated families, even though these conditions remain exceedingly rare:

• two of these patients showed signs that initially led to the diagnosis of facioscapulohumeral muscular dystrophy (FSHD),
• In both cases, the muscle deficit was clearly asymmetrical,
• all six patients, half of whom were Tatar, carried the MATR3 gene mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). associated with the VCPDM phenotype (autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. variant p.S85C).
• onset of symptoms was between 30 and 40 years of age.

This FSHD-like presentation adds to the clinical description of the disease, and is reminiscent of what has already been observed in VCP-related myopathy.

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series. Murtazina A, Subbotin D, Kuchina A et al. Front Genet. 2024 Aug.