Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

ABSTRACT: X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to mouth and depend on a respirator 24 hours a day every day. This suggests that ventilator requirements may not illustrate the full clinical picture of patients with XLMTM. At present, there is no curative therapy available, despite first promising results from ongoing gene therapy studies.In this study, we evaluated in detail the data from 13 German XLMTM patients, which was collected over a period of up to 20 years in our university hospital. We compared it to the international prospective longit

SUBMITTER: Gangfuss A 

PROVIDER: S-EPMC7902950 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature