LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Caracterización clínica de pacientes con miopatía inflamatoria en la región del Maule

Silva San Martín, Constanza; Luengo Navarro, Joaquín; Fernández Labra, Emily; Uribe Peredo, Rebeca; Obando Alcayaga, Catalina; Guerrero Vásquez, Diego; Cancio Hernández, Frank.

Rev. méd. Maule; 39 (2), 2024

Inflammatory myopathies belong to a heterogeneous group of autoimmune diseases, which are mainly characterized by muscle weakness, elevated muscle enzymes, myopathic changes on electromyography, and muscle biopsy abnormalities. They may also have extraocular manifestations as well as involvement of the l...

Miositis/diagnóstico, Enfermedades Autoinmunes/diagnóstico, Miositis/genética, Enfermedades Autoinmunes/genética, MicroARNs, Músculo Esquelético, ARN no Traducido/genética, Prevalencia, Signos y Síntomas, Distribución por Edad y Sexo, Comorbilidad, Anticuerpos

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Inflammatory myopathy in the context of an unusual overlapping laminopathy

Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscula...