Cargando…
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association
Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive weakness of proximal lower limbs. Examination...
Autores principales: | Ramakrishnan, Subasree, Narayanappa, Gayathri, Christopher, Rita |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548382/ https://www.ncbi.nlm.nih.gov/pubmed/23349609 http://dx.doi.org/10.4103/0972-2327.104352 |
Ejemplares similares
-
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation–Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency
por: Chandra, Sadanandavalli R., et al.
Publicado: (2018) -
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis
por: Saroja, Aralikatte Onkarappa, et al.
Publicado: (2013) -
Muscle MRI-Based Atrophy Pattern Recognition: Notable Findings in a Case of Pathologically Proven Lipid Storage Myopathy
por: Patwardhan, Ameya, et al.
Publicado: (2022) -
Mutation Spectrum of Primary Lipid Storage Myopathies
por: Vengalil, Seena, et al.
Publicado: (2022) -
Lipolysis and lipophagy in lipid storage myopathies
por: Angelini, Corrado, et al.
Publicado: (2016)