Assessment of Genetics Mutation of SMN1, SMA And SMN2 Genes In Spinal Atrophy-Muscle
نویسندگان
چکیده
منابع مشابه
SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...
متن کاملMolecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene. Additionally, the phenotype is modified by several genes nearby SMN1 in the 5q13 region. In this study, we analyzed mutations in SMN1 and quantified the modifying genes, including SMN2, NAIP, GTF2H2, and H4F5 by polymerase ...
متن کاملCorrection: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
[This corrects the article DOI: 10.1371/journal.pone.0152439.].
متن کاملmolecular analysis of the smn1 and naip genes in patients with spinal muscular atrophy
proximal spinal muscular atrophy (sma) is one of the most common autosomal recessive disorders. sma has an estimated incidence of 1 in 10,000 live births. the clinical picture of sma is quite variable and childhood sma has been classified into 3 types. type i, werdnig-hoffmann disease, is the most acute and severe, with an onset before the age of 6 months and death usually occurring before the ...
متن کاملSpinal muscular atrophy (SMA).
? Multiple Choice Questions Section The Neuroscience Journal introduces this new section on multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read t...
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ژورنال
عنوان ژورنال: International Journal of Cell Science & Molecular Biology
سال: 2017
ISSN: 2572-1100
DOI: 10.19080/ijcsmb.2017.03.555615