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What Is in the Myopathy Literature?

Lacomis, David, MD*; Abdel-Hamid, Hoda Z., MD

Journal of Clinical Neuromuscular Disease: March 2019 - Volume 20 - Issue 3 - p 129–134
doi: 10.1097/CND.0000000000000226
Review Article

We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscular dystrophy, early detection of left ventricular systolic dysfunction, and caregiver burden are also covered. A study of skeletal muscle magnetic resonance imaging in dysferlinopathies provides an extensive, detailed map of the involved muscles and consistency across phenotypes. Regarding the category of autoimmune myopathies, we discuss an article on the clinical and laboratory features associated with PM/Scl antibodies in comparison with other autoimmune myopathy subgroups. Finally, the overall increase in mortality in inflammatory myopathies is highlighted in a recent report from Sweden.

Departments of *Neurology and Pathology (Neuropathology), and

Pediatrics (Child Neurology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

Reprints: David Lacomis, MD, UPMC-Presbyterian, Room F872, 200 Lothrop St, Pittsburgh, PA 15213 (e-mail:

The authors report no conflicts of interest.

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