A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay
A Papadimitriou, AM Dumitrescu, A Papavasiliou… - …, 2008 - publications.aap.org
Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine
and especially triiodothyronine into target cells. It is expressed in brain neurons and in many
other tissues. The monocarboxylate transporter 8 gene resides on chromosome Xq13. 2. An
11-month-old male infant was referred because of severe hypotonia from early life and
global developmental delay. Thyroid-function tests showed normal thyrotropin levels and the
characteristic for the disorder, including high serum triiodothyronine and low thyroxine …
and especially triiodothyronine into target cells. It is expressed in brain neurons and in many
other tissues. The monocarboxylate transporter 8 gene resides on chromosome Xq13. 2. An
11-month-old male infant was referred because of severe hypotonia from early life and
global developmental delay. Thyroid-function tests showed normal thyrotropin levels and the
characteristic for the disorder, including high serum triiodothyronine and low thyroxine …
