Work

Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.

Year: 2024

Type: article

Abstract: 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.

Source: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases

DOI: 10.36185/2532-1900-675

Authors: Guillaume Baille, Gianmarco Severa, Camille Verebi, Robert-Yves Carlier, Edoardo Malfatti

Institutions: Fondation de Rothschild, Inserm, Université Paris-Est Créteil, Assistance Publique – Hôpitaux de Paris, Institut Mondor de Recherche Biomédicale, Pôle de recherche et d'enseignement supérieur Université Paris-Est, Université Paris Cité, Hôpital Cochin, Université de Versailles Saint-Quentin-en-Yvelines, Hôpital Raymond-Poincaré

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4408070107

FWCI:

Cites: 1

Cited by:

Related to: 10