Article
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.
Clinical neuropathology - 1 Jan 2000
Fischer S, Drenckhahn C, Wolf C, Eschrich K, Kellermann S, Froster U G, Schober R
Abstract excerpt
OBJECTIVE: Primary myoadenylate deaminase deficiency (MADD) is probably the most frequent inborn metabolic myopathy with a prevalence of up to 2%. It is the result of mutations in the AMPDI gene, the most common of which is a C34-T transition in exon 2. The importance of the more rare mutation G468-T in exon 5 is uncertain. Primary objective was to elucidate the clinical significance of the enzyme disorder, which...
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