The first Japanese case of myopathy linked to the myoglobin gene

Myoglobinopathy gene (MB gene) is an 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., ultra-rare neuromuscular disease characterized by microscopically visible sarcoplasmic inclusions. The new and first Japanese case reported here highlights the following points:

• the patient, 71 years old, presented signs similar to those already described in this disease (proximal and axial muscle deficit, respiratory insufficiency);
• to which were added a facial impairment and dysphagia, the whole picture being able to be confused with an oculo-pharyngeal myopathy;
• the nutritional state of the patient required a gastrostomy;
• the identified mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). of the MB gene was the same as the one already reported.

Myoglobinopathy affecting facial and oropharyngeal muscles. Hama Y, Mori-Yoshimura M, Aizawa K et al. Neuromuscul Disord. 2022 Jun;32(6):516-520.