Article
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Neuromuscular disorders : NMD - 1 Feb 2016
Natera-de Benito D, Bestué M, Vilchez J J, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas M J, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A
Abstract excerpt
Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes. We present a comprehensive description of the clinical and molecular findings of ten patients with CMS due to mutations in RAPSN, mostly with a long-term follow-up. Two patients were homozygous and eight were heterozygous for the common p.Asn88Lys mutation. In three of the heterozygous patients we have identified three...
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