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Ryanodine myopathies without central cores-clinical, histopathologic, and genet...
Rocha, J; Taipa, R; Melo Pires, M; Oliveira, J; Santos, R; Santos, MBACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-yea...
Hereditary neuropathy with liability to pressure palsy: a recurrent and bilater...
Flor-de-Lima, F.; Macedo, L.; Taipa, R.; Melo-Pires, M.; Rodrigues, M.Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he f...
Expanding the MTM1 mutational spectrum: novel variants including the first mult...
Oliveira, J.; Oliveira, M.; Kress, W.; Taipa, R.; Melo-Pires, M.; Hilbert, P.; Baxter, P.; Santos, M.; Buermans, H.; den Dunnen, J.; Santos, R.Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulat...
Leucoencefalitis aguda hemorrágica de Weston Hurst. Estudio neuropatológico de ...
Fontoura, P.; Mendes, A.; Correia, M.; Melo-Pires, M.Summary. Introduction. Acute hemorrhagic leukoencephalitis (AHL), or Hurst disease is a rare, usually fatal, disease, probably due to an autoimmune cross reaction against myelin antigens present in the central nervous system, and which forms a spectrum of postinfeccious demyelinating diseases with acute disseminated encephalomyelitis. Case report. The patient was a 21 year old female who presented with an acute...
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