Genetic findings of Cypriot spinal muscular atrophy patients

@article{Theodorou2015GeneticFO,
  title={Genetic findings of Cypriot spinal muscular atrophy patients},
  author={L. Theodorou and Paschalis Nicolaou and Pantelitsa Koutsou and Anthi Georghiou and Violetta Anastasiadou and George A. Tanteles and Theodoros Kyriakides and Eleni Zamba-Papanicolaou and K. N. Christodoulou},
  journal={Neurological Sciences},
  year={2015},
  volume={36},
  pages={1829-1834}
}
Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disorder characterised commonly by proximal muscle weakness and wasting in the absence of sensory signs. Deletion or disruption of the SMN1 gene causes the disease. The SMN1 gene is located within an inverted duplication on chromosome 5q13 with the genes SMN2, NAIP and GTF2H2. MLPA… CONTINUE READING