نتایج جستجو برای: ژن clcn1
تعداد نتایج: 15916 فیلتر نتایج به سال:
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
Non-dystrophic myotonias (NDM) are rare muscle disorders caused by mutations in skeletal voltage-gated channels leading to delayed relaxation after voluntary contraction. They subdivided into sodium channelopathies, when the mutation is SCN4A gene, and chloride CLCN1 gene. Symptoms, which may differ according subtype, exacerbating factors, over disease course, can include stiffness, pain, fatig...
Myotonia congenita is caused by mutation of the CLCN1 gene, which encodes the human skeletal muscle chloride channel (ClC-1). The ClC-1 protein is a dimer comprised of two identical subunits each incorporating its own separate pore. However, the precise pathophysiological mechanism underlying the abnormal ClC-1 channel gating in some mutants is not fully understood. We characterized a ClC-1 mut...
A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and cataracts compatible with the syndrome of proximal myotonic myopathy, is reported. In addition, brain MRI showed a diffuse leukoencephalopathy in the propositus. Molecular genetic studies showed the R894X mutation in exon 23 of the muscle chloride channel gene in the propositus but in only on...
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