TY - GEN AU - Tonduti,Davide AU - Pichiecchio,Anna AU - La Piana,Roberta AU - Livingston,John H AU - Doherty,Daniel A AU - Majumdar,Anirban AU - Tomkins,Susan AU - Mine,Manuele AU - Ceroni,Mauro AU - Ricca,Ivana AU - Balottin,Umberto AU - Orcesi,Simona TI - COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers SN - 1439-1899 PY - 2013///0325 KW - Adolescent KW - Adult KW - Brain Diseases KW - genetics KW - Calcinosis KW - etiology KW - Cerebral Cortex KW - pathology KW - Child KW - Child, Preschool KW - Collagen Type IV KW - Creatine Kinase KW - metabolism KW - Female KW - Humans KW - Magnetic Resonance Imaging KW - Male KW - Middle Aged KW - Mutation KW - Nerve Fibers, Myelinated N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1055/s-0032-1325116 ER -