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Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

✍ Scribed by Jędrzejowska, Maria; Gos, Monika; Zimowski, Janusz G.; Kostera-Pruszczyk, Anna; Ryniewicz, Barbara; Hausmanowa-Petrusewicz, Irena


Book ID
121752674
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
479 KB
Volume
24
Category
Article
ISSN
0960-8966

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Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g