Article
A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.
Molecular medicine reports - 1 Apr 2015
Hong Young Bin, Lee Ja Hyun, Park Hyung Jun, Choi Yu-Ri, Hyun Young Se, Park Ji Hoon, Koo Heasoo, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
Mutations in the β‑tubulin isotype III (TUBB3) gene result in TUBB3 syndrome that includes congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual impairments and/or an axonal sensorimotor neuropathy. In the present study, a TUBB3 D417N mutation was identified in a family with...
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