A novel group of patients show features of infantile neuronal axonal dystrophy (INAD), cerebellar atrophy, and neuronal brain iron accumulation (NBIA) associated with mutations in the PLA2G6 gene.

Autor: Kurian MA, Morgan NV, Wassmer E, MacPherson L, Peake D, Gupta R, Philip SG, Hendriksz C, Green SH, Morton JEV, Gissen P, Maher ER
Zdroj: Developmental Medicine & Child Neurology; Jan2007 Supplement 108, Vol. 49, p9-9, 1p
Databáze: Complementary Index
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