Now showing items 1-10 of 291
(Dustri-verlag Dr Karl FeistleMunchen-deisenhofenAlemanha, 1996)
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier Ltd, 2017)
© 2017 Elsevier B.V. Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and ...
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
(NLM (Medline), 2019)
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large ...
"Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy
(Springer Verlag, 2009)
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy
(John Wiley and Sons Inc., 2014)
© 2014 Wiley Periodicals, Inc.Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary ...
Histomorphologic and ultrastructural recovery of myopathy in rats treated with low-level laser therapy
(Springer London Ltd, 2017-05)
The purpose of the present work was to study the effect of low-level laser therapy (LLLT): helium-neon (He-Ne) and gallium arsenide (Ga-As) laser on the histomorphology of muscle and mitochondria in experimental myopathy ...
Miopatia do multicore: Análise histoquímica de uma família
In this paper the authors describe three cases of multicore myopathy in the same family. Case J was a white 77-year-old patient with proximal muscular atrophy and weakness, global hypotonia and global hypoactive deep tendon ...
Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset
(Academia Brasileira de Neurologia - ABNEURO, 1998-03-01)
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; ...
Acute necrotizing myopathy and podophyllin toxicity: report of a fatal case
(Academia Brasileira de Neurologia - ABNEURO, 1996-06-01)
A 21 year old male ingested podophyllin in a suicide attempt. The disorder was marked by seizures, coma, peripheral neuropathy, renal failure and acute necrotizing myopathy, an unusual finding. The coma and systemic ...