We report a patient with SMA who is homozygous for two mutations carriedin cis: an 8 bp duplication (c.48_55dupGGATTCCG; p.Val19fs*24) and a point mutation (c.662C>T; p.Pro221Leu). The consanguineous parents carry the same two mutations within oneSMN1gene copy. We demonstrate that...
A Missense Mutation in NUP155 Cosegregates with AF in the arAF1 Family We systematically analyzed almost all the known and putative genes within the refined arAF1 locus (not including the known disease-causing genes, SMN1 and SMN2, for amyotrophic lateral sclerosis and spinal muscular atrophy, ...
SMN1 gene study in three families in which ALS and spinal muscular atrophy coexist Neurology, 59 (2002), pp. 1464-1466 View in ScopusGoogle Scholar Eymard-Pierre et al., 2002 E Eymard-Pierre, G Lesca, S Dollet, FM Santorelli, M di Capua, E Bertini, O Boespflug-Tanguy Infantile-onset ...
Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot... Q Niu,X Wang,M Shi,... - 《Neurology Genetics》 被...
The KCL026 human embryonic stem cell line was derived from an embryo donated for research that carried a mutation in the SMN1 gene encoding survival of motor neuron 1, telomeric (exons 7 and 8 deletion). Mutations in this gene are associated with spinal muscular atrophy. The ICM was isolated...
et al. (2008) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum. Genet.Alias L, Bernal S, Fuentes-Prior P, Barcelo MJ, Also E, Martinez-Hernandez R, Rodriguez-Alvarez FJ,...
(SMA)is a common autosomal recessive neuromuscular disorder,which is caused by mutations of survival motor neuron 1(SMN1)gene.Approximately90-95%of SMA patients have homozygous deletion of SMN1.5-10%of patients are believed to have subtle mutations.The molecular diagnosis of SMN1 subtle mutations ...
5q spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and the leading genetic cause of infantile death. Patients lack a functional survival of motor neurons (SMN1) gene, but carry one or more copies of the highly homologous SMN2 gene. A homozygous knockout of ...
An apparatus, method and system for detecting SMN1 gene mutation, especially detecting the homozygous deletion of the seventh exon of SMN1 gene, by analyzing high-throughput sequencing results. The apparatus, method and system can be used to diagnose spinal muscular atrophy (SMA) or differentially ...
SMN1Basepair substitutionPCRRestrictionReal-time PCRMLPAIn most patients with infantile spinal muscular atrophy (SMA) both exons 7 and 8 of the gene are deleted, but the deletion may also be restricted to exon 7. We report on an SMA type I patient who was initially diagnosed to be ...