[To clarify the pathomechanism of spinal muscular atrophy (SMA) with mutations in the gene for survival motor neuron (SMN) protein, postmortem neuropathological analyses were performed on spinal cords obtained at autopsy from 2 fetuses with SMA, 5 infants and a low teenager with SMA type 1, and a higher teenager with SMA type 2; the diagnosis of all of them was confirmed clinically and genetically.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE