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Total 62 results found since Jan 2013.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
<span class="paragraphSection">Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. We identified two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein triple kinase ZAK. In total, six affected patients carry these mutations. Reverse t...
Source: Brain - November 4, 2016 Category: Neurology Source Type: research
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
In conclusion, the mutations in the last exon of MYL2 are responsible for a novel autosomal recessive lethal myosinopathy due to defects changing the C-terminal tail of the ventricular form of the myosin regulatory light chain. We propose ‘light chain myopathy’ as a name for this MYL2-associated myopathy.
Source: Brain - January 29, 2013 Category: Neurology Authors: Weterman, M. A. J., Barth, P. G., van Spaendonck-Zwarts, K. Y., Aronica, E., Poll-The, B.-T., Brouwer, O. F., van Tintelen, J. P., Qahar, Z., Bradley, E. J., de Wissel, M., Salviati, L., Angelini, C., van den Heuvel, L., Thomasse, Y. E. M., Backx, A. P., Tags: Original Articles Source Type: research
