Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
C
C
Tello
Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
A
A
Darling
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
V
V
Lupo
Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
C I
CI
Ortez
Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
B
B
Pérez-Dueñas
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
C
C
Espinós
D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005307:Fertilization in Vitro; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000235:genetics* / Q000378:metabolism; D035781:Siblings; D024182:Uniparental Disomy
D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human