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Updated: May 25, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
Published on: March 24, 2023
Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case
Guillaume Baille1, Gianmarco Severa2,3, Camille Verebi4
1Neurology department, Fondation Rothschild, Paris.
Abstract:
Tubular aggregate myopathy is a rare neuromuscular condition associated with the presence of myofibers protein accumulations, in the form of dense tubular aggregates. Clinically it is characterized by proximal muscular weakness, exercise-induced cramps, myalgias, and ocular features such as ophthalmoplegia and pupillary abnormalities. The involvement of the central nervous system is rare and not completely elucidated. Variants in STIM1, ORAI1, CASQ1 genes are frequently associated with tubular aggregate myopathy. Here we describe a 35-year-old man who presented neonatal hypotonia, motor delay, seizures, and sensorineural hearing loss. During a SARS-CoV-2 infection at the age of 35, he developed myoclonus, encephalopathy, and marked muscular weakness. A deltoid muscle biopsy revealed the presence of tubular aggregates. Genetic analyses including a Whole Genome sequencing failed to reveal a genetic cause. In conclusion, we enlarge the clinical spectrum of tubular aggregate myopathy associated with central nervous system involvement.
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