In an 8-year-old girl of consanguineous Turkish parents, who developed ataxic gait and polyneuropathy at the age of 3 years, we identified a biallelic missense variant c.424C>T, p.R142W in Glypican 1 (GPC1) by using whole genome sequencing. Up to date, GPC1 has not been associated with a neuromuscul...
ORGANISM(S): Homo sapiens (Human)