Article
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
American journal of medical genetics. Part A - 1 Oct 2020
Farnè Marianna, Tedesco Giovanna M, Bedetti Chiara, Mencarelli Amedea, Rogaia Daniela, Colavito Davide, Di Cara Giuseppe, Stangoni Gabriela, Troiani Stefania, Ferlini Alessandra, Prontera Paolo
Abstract excerpt
Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5-year-old female, one of the oldest reported, born to apparently consanguineous...
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