Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy. Issue 5 (18th June 2015)

• Record Type: Journal Article
• Authors: Malfatti, Edoardo; Chaves, Marcelo; Bellance, Remi; Viou, Mai Thao; Sarrazin, Elisabeth; Fardeau, Michel; Romero, Norma B.
• Is Part Of: Muscle & nerve. Volume 52:Issue 5(2015:Nov.)
• Page Start: 895
• Page End: 899
• Publication Date: 2015-06-18
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.24699
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p> <italic>Introduction</italic>: Cylindrical spirals are characteristic muscular inclusions consisting of spiraling double‐laminated membranes. They are found in heterogeneous clinical conditions. <italic>Methods</italic>: We obtained muscle biopsies from 2 young sisters with severe congenital hypotonia, muscle weakness, and epileptic encephalopathy, and identified cylindrical spirals. <italic>Results</italic>: We found an association between congenital encephalomyopathy and cylindrical spirals. <italic>Conclusions</italic>: In this morphological and ultrastructural study, we speculate on the origin of these peculiar structures. <italic>Muscle Nerve</italic><bold>52</bold>: 895–899, 2015</p> </abstract>