Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients
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In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.... ...
