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Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.
Mol Genet Metab
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain; Mitochondrial and Neuromuscular Research Group '12 de Octubre', Hospital Research Institute (imas12), Madrid 28041, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:
Background And Objectives: Mitochondrial diseases are caused by defects in oxidative phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where muscle involvement is predominant. PMM presents symptoms ranging from exercise intolerance to progressive muscle weakness, often involving ocular muscles, leading to ptosis and progressive external ophthalmoplegia (PEO). PMM can be due to variants in mitochondrial or nuclear DNA.
View Article and Find Full Text PDFNovel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFRheumatic Manifestations of Sarcoidosis.
Diagnostics (Basel)
December 2024
North Bristol NHS Foundation Trust, Bristol BS10 5NB, UK.
Sarcoidosis is a multisystem granulomatous inflammatory disorder, of unknown aetiology, which causes a wide spectrum of clinical phenotypes. It can present at any age, most commonly between 20 and 60 years, with a roughly equal sex distribution. Diagnosis is often delayed due to multiple diagnostic mimics, particularly joint disease.
View Article and Find Full Text PDFPtosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatment.
Clin Neurol Neurosurg
December 2024
Department of Neurosciences and Mental Health, Unidade Local de Saúde de Santa Maria, Lisbon, Portugal; Faculdade de Medicina-Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Universidade de Lisboa, Lisbon, Portugal.
Objective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature.
Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted.
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