Fig. 2: CD99L2 mutation status and distribution of identified variants.
From: Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
a–k Pedigrees of the investigated families carrying functionally relevant variants in CD99L2. The observed inheritance patterns are consistent with an X-linked model, showing full penetrance in males and variable penetrance and expressivity in female carriers. Asterisks (*) indicate fully characterised patients. l, Gene structure of CD99L2 depicting known domains of the encoded protein, the localisation of identified variants. Intronic regions are not drawn to scale. Source data are provided as a Source Data file.
