Cardiac pathology in spinal muscular atrophy: a systematic review

Cardiac pathology in spinal muscular atrophy: a systematic review

Abstract Background 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 r...

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Bibliographic Details
Main Authors: C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg, W. L. van der Pol
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Spinal muscular atrophy
SMA
Werdnig-Hoffmann
Kugelberg-Welander
Cardiac pathology
Cardiac abnormalities
Online Access:http://link.springer.com/article/10.1186/s13023-017-0613-5

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