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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 ...
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 ...
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation
(PERGAMON-ELSEVIER SCIENCE LTD, 2011-02)
Dynamin-2 in nervous system disorders
(2014)
Dynamin-2 is a pleiotropic GTPase whose best-known function is related to membrane scission during vesicle budding from the plasma or Golgi membranes. In the nervous system, dynamin-2 participates in synaptic vesicle ...
Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset
(Wiley-Liss, 2007-12)
We report four heterozygous dynamin 2 (DNM2) mutations
in five centronuclear myopathy patients aged 1 to 15 years.
They all presented with neonatal hypotonia with weak suckling.
Thereafter, their phenotype progressively ...
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis
(2009)
Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology ...
CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample
(2009)
To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′-UTR of the gene ...
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
(Springer-Verlag, 2008-12-16)
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 ...
Further insights in nemaline myopathy (NM) with hyaline masses
(Elsevier, 2017)