Article
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Human mutation - 1 Dec 2013
Chen Dong-Hui, Naydenov Alipi, Blankman Jacqueline L, Mefford Heather C, Davis Marie, Sul Youngmee, Barloon A Samuel, Bonkowski Emily, Wolff John, Matsushita Mark, Smith Corrine, Cravatt Benjamin F, Mackie Ken, Raskind Wendy H, Stella Nephi, Bird Thomas D
Abstract excerpt
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a recently described autosomal-recessive neurodegenerative disease caused by mutations in the α-β-hydrolase domain-containing 12 gene (ABHD12). Only five homozygous ABHD12 mutations have been reported and the pathogenesis of PHARC remains unclear. We evaluated a woman who manifested short stature as well as the typical features...
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