Article
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Human molecular genetics - 15 Sept 2004
Delia Domenico, Piane Maria, Buscemi Giacomo, Savio Camilla, Palmeri Silvia, Lulli Patrizia, Carlessi Luigi, Fontanella Enrico, Chessa Luciana
Abstract excerpt
Hypomorphic mutations of the MRE11 gene are the hallmark of the radiosensitive ataxia-telangiectasia-like disorder (ATLD). Here, we describe a new family with two affected siblings, ATLD5 and ATLD6, now aged 37 and 36, respectively. They presented with late onset cerebellar degeneration slowly progressing until puberty and absence of telangiectasias, and were cancer-free. Both patients were wild-type for ATM and...
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