Myology research highlights
RSS feedMedical and surgical treatment for ocular myasthenia
Approximately 50% of people with myasthenia gravis present with purely ocular symptoms so called ocular myasthenia. Of these, 50% to 60% develop generalized disease, most within two years. Their management is controversial. This is an update of a review first published in 2006 and previously updated in 2008 and 2010. This update aimed to assess … [Read more]
Myotubular myopathy mice respond to modified myotubularin protein injections
No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. Mtm1δ4 and Mtm1 p.R69C mice model severely- and moderately-symptomatic XLMTM, respectively, due to differences in the degree of myotubularin deficiency. Contractile function of intact EDL and soleus muscles from Mtm1δ4 mice, … [Read more]
The frequency and severity of cardiac involvement in myotonic dystrophy type 2
Frequency and severity of cardiac involvement in DM2 are still controversial. The aims of this study were to determine the frequency and progression of cardiac and muscle involvement in a relatively large cohort of patients with DM2 throughout Italy and Germany and to provide long-term outcomes in this disorder. One hundred and four DM2 and … [Read more]
