Myoglobinopathy gene (MB gene) is an autosomal dominant, 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 mutation of the MB gene was the same as the one already reported.
