Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center
نویسندگان
چکیده
منابع مشابه
Genetic testing for spinal muscular atrophy.
We would be particularly interested to hear more about the clinical phenotype and epidemiology of this cohort of patients. The authors have, for example, included phenotypic patients with facial weakness in their grouping. This is of significance because the international guidelines (ENMC, 1998) regard these as exclusion criteria for SMA. In our cohort of patients, facial weakness in the SMA mo...
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Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...
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Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
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After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustme...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2002
ISSN: 1525-1578
DOI: 10.1016/s1525-1578(10)60680-0