Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. Issue 2 (December 2016)

• Record Type: Journal Article
• Authors: Verma, Sumit; Balasubramanian, Suman B.
• Is Part Of: Journal of clinical neuromuscular disease. Volume 18:Issue 2(2016:Dec.)
• Publication Date: 2016-12
• Subjects: centronuclear myopathy -- EMG -- DNM2 -- neuromuscular junction transmission -- distal muscle weakness; Neuromuscular diseases -- Periodicals; 616.744005
• DOI: 10.1097/CND.0000000000000141
• Languages: English
• ISSNs: 1522-0443

Abstract

Abstract : Abstract: Dynamin (DNM2) centronuclear myopathy (CNM) has variable age of onset, distal greater than proximal muscle weakness, ptosis with or without extraocular muscle weakness, and a characteristic muscle biopsy with radial sarcoplasmic strands giving spoke like appearance. The following case report highlights clinical, electrophysiology, and pathology features of a genetic confirmed DNM2 CNM subject. In addition, a review of literature on all genetic confirmed DNM2 CNM cases published in English literature from 2006 to 2016 is presented.