Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients

• Main Authors: Ana Cotta (Author), Elmano Carvalho (Author), Antonio Lopes da- (Author), Eni Braga da Silveira (Author), Bruno Arrivabene Cordeiro (Author), Maria Isabel Lima (Author), Monica Machado Navarro (Author), Frederico Godinho (Author), Jaquelin Valicek (Author), Miriam Melo Menezes (Author), Simone Vilela Nunes-Neves (Author), Antonio Pedro Vargas (Author), Rafael Xavier da- (Author), Cynthia Costa- (Author), Reinaldo Issao Takata (Author), Alexandre Faleiros Cauhi (Author), Julia Filardi Paim (Author), Mariz Vainzof (Author)
• Format: Book
• Published: BMC, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Telethoninopathy or TCAP-gene related Limb Girdle Muscular Dystrophy is a rare genetic disease that was first described in Brazil. There are around 100 families reported worldwide. Due to its rarity, detailed information on muscle biopsy light and electron microscopic features ar...