Figure. Genetic and Clinical Findings of the Investigated Individuals.

(A) Family tree and electropherograms of the identified PCYT2 variants. (B and C) Clinical photographs of patient 1 at age 41 years. Muscle wasting and hip and knee flexion contractures (B). High-arched feet and hammertoes (C). (D) Schematic representation of the protein isoform PCYT2α and location of variants. PCYT2 protein is predicted to have 2 cytidylyltransferase (CTP) catalytic domains. The homozygous missense variant (in red) identified in this study is located in the first CTP domain. Amino acid sequence alignments across multiple species reveal the well-conserved nature of the affected amino acid residue. All previously reported missense variants (in black) are located in the second CTP domain.