L'amyotrophie bulbaire et spinale liée au chromosome X : une étude clinique, neurophysiologique et moléculaire de 12 patients issus de 4 familles

This report demonstrates that SBMA may present with a wider clinical spectrum than previously described and suggests that clinical phenotype severity in SBMA is partially linked to the number of CAG repeats. It also suggests that SMN1 and SMN2 genes do not act as modifying genes in SBMA.