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National Repository of Grey Literature 2 records found  Search took 0.01 seconds. 
Spinal muscular atrophy
 Bohatá, Jana ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which affects α-motor neurons in anterior horns of spinal cord resulting in progressive muscle weakness. The estimated incidence is 1:10 000 and carrier frequency 1:40-1:60. SMA is classified into four grades depending on the age of onset and its severity. Life expectancy differs according to grade of SMA, patients suffering from the most serious grades live about two years, milder could live to adulthood. This disorder is caused by mutation of the SMN1 gene which is located on the fifth chromosome. In the majority of cases the type of mutation is homozygous deletion in SMN1 gene. Keywords: Spinal muscular atrophy; neuromuscular disorder; alpha motor neurons; autosomal recessive disorder; SMN1; SMN2
Detailed record
Spinal muscular atrophy
 Bohatá, Jana ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which affects α-motor neurons in anterior horns of spinal cord resulting in progressive muscle weakness. The estimated incidence is 1:10 000 and carrier frequency 1:40-1:60. SMA is classified into four grades depending on the age of onset and its severity. Life expectancy differs according to grade of SMA, patients suffering from the most serious grades live about two years, milder could live to adulthood. This disorder is caused by mutation of the SMN1 gene which is located on the fifth chromosome. In the majority of cases the type of mutation is homozygous deletion in SMN1 gene. Keywords: Spinal muscular atrophy; neuromuscular disorder; alpha motor neurons; autosomal recessive disorder; SMN1; SMN2
Detailed record

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