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In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is… Click to show full abstract
In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by degeneration of alpha motor neurons. Plastin 3 (PLS3) is a phenotypic modifier of SMA, and neuritin 1 (NRN1) has also been suggested as a possible modifier gene. The aim of the present study was therefore to analyze PLS3 and NRN1 expression in SMA siblings in four families.
Keywords:
spinal muscular;
modifier genes;
genes spinal;
transcript levels;
muscular atrophy
Journal Title: Pediatrics International
Year Published: 2017
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Journal Title: Pediatrics International
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!