Carrier screening for spinal muscular atrophy
نویسندگان
چکیده
منابع مشابه
Newborn and carrier screening for spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complement...
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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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Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative disease that leads to infant mortality worldwide. SMA is caused by genetic deletion or mutation in the survival of motor neuron 1 (SMN1) gene, which results in a deficiency in SMN protein. For reasons that are still unclear, SMN protein deficiency predominantly affects α-motor neurons, resulting in their de...
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Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (http...
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Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2008
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e318188d069