Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia
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منابع مشابه
A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis...
متن کاملAgrin Acts via a MuSK Receptor Complex
Formation of th neuromuscular junction depends upon reciprocal inductive interactions between the developing nerve and muscle, resulting in the precise juxtaposition of a differentiated nerve terminal with a highly specialized patch on the muscle membrane, termed the motor endplate. Agrin is a nerve-derived factor that can induced molecular reorganizations at the motor endplate, but the mechani...
متن کاملAutoantibodies to Agrin in Myasthenia Gravis Patients
To determine if patients with myasthenia gravis (MG) have antibodies to agrin, a proteoglycan released by motor neurons and is critical for neuromuscular junction (NMJ) formation, we collected serum samples from 93 patients with MG with known status of antibodies to acetylcholine receptor (AChR), muscle specific kinase (MuSK) and lipoprotein-related 4 (LRP4) and samples from control subjects (h...
متن کاملLRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Using Sanger and exome sequencing in a CMS patient, we identified two heteroallelic mutations, p.Glu1233Lys and p.Arg1277His, in LRP4 coding for the postsynaptic low-density lipoprotein receptor-related protein 4. LRP4, exp...
متن کاملANP mutation causes reduced proteolysis
Background A heterozygous frameshift (fs) mutation causing a 12 amino acid extension to the C-terminus of atrial natriuretic peptide (ANP) was recently genetically linked to patients with familial atrial fibrillation [1]. The frameshift product (fsANP), but not wild type ANP (wtANP), was elevated in the serum of affected patients, but the molecular basis for the elevated peptide concentrations ...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2013
ISSN: 1932-6203
DOI: 10.1371/annotation/3ff2b918-c83c-4c6f-a2e2-4d91294ec92f