Article
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Orphanet journal of rare diseases - 12 Jul 2013
Kim Hyeon Jin, Hong Young Bin, Park Jin-Mo, Choi Yu-Ri, Kim Ye Jin, Yoon Bo Ram, Koo Heasoo, Yoo Jeong Hyun, Kim Sang Beom, Park Minhwa, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
BACKGROUND: Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). METHODS: To identify the causative mutation in an autosomal recessive intermediate CMT (RI-CMT) family with childhood...
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