Article
Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.
Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2011
Filho Hamilton Cabral de Menezes, Marui Suemi, Manna Thais Della, Brust Ester Saraiva, Radonsky Vanessa, Kuperman Hilton, Dichtchekenian Vaê, Setian Nuvarte, Damiani Durval
Abstract excerpt
MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of...
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