Article
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
Neurology - 26 Apr 2005
Flusser H, Korman S H, Sato K, Matsubara Y, Galil A, Kure S
Abstract excerpt
BACKGROUND: Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening. Milder, later onset variants have been reported but were usually sporadic and incompletely defined. OBJECTIVE: To determine the clinical and biochemical phenotype and molecular basis of mild GE in nine children from a consanguineous Israeli Bedouin kindred. METHODS: Genomic DNA was screened for GLDC, AMT, and GCSH...
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