TY - JOUR AU - Wijngaarde, C. A. AU - Blank, A. C. AU - Stam, M. AU - Wadman, R. I. AU - van den Berg, L. H. AU - van der Pol, W. L. PY - 2017 DA - 2017/04/11 TI - Cardiac pathology in spinal muscular atrophy: a systematic review JO - Orphanet Journal of Rare Diseases SP - 67 VL - 12 IS - 1 AB - Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-017-0613-5 DO - 10.1186/s13023-017-0613-5 ID - Wijngaarde2017 ER -