Related Experiment Video
Updated: Apr 12, 2026

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy
Edoardo Malfatti1, Marcelo Chaves2, Remi Bellance3
1UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.
Introduction:
Cylindrical spirals are characteristic muscular inclusions consisting of spiraling double-laminated membranes. They are found in heterogeneous clinical conditions.
Methods:
We obtained muscle biopsies from 2 young sisters with severe congenital hypotonia, muscle weakness, and epileptic encephalopathy, and identified cylindrical spirals.
Results:
We found an association between congenital encephalomyopathy and cylindrical spirals.
Conclusions:
In this morphological and ultrastructural study, we speculate on the origin of these peculiar structures.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
07:07Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
Related Concept Videos
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Microtubules in Signaling
Mechanism of Ciliary Motion
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Bacterial Phylum Spirochaetes
Cytoskeletal Proteins in Bacteria