Molecular diagnosis of muscular diseases in outpatient clinics
نویسندگان
چکیده
منابع مشابه
O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)
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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limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...
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duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and...
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The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the diagnosis and prenatal diagnosis of SMA, were investigated by molecular analysis of stored DNA and retrospective review of case notes. In type I SMA, 16 of 17 cases were homozygously deleted for ex...
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inherited autosomal neuromuscular disorder which is characterized by progressive muscle weakness and is the leading genetic cause of childhood deaths. The SMA is clinically heterogenous and clinical spectrum ranges from early infant death to normal adult life with only mild weakness. The International SMA Consortium has subdivided the disease into three types according to age at first symptoms ...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2020
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000408