Mutations in the AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) gene on Xq26.1 have been associated with multiple clinical phenotypes [1-4], including X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX4; MIM #310490) [5, 6], mitochondrial encephalomyopathy (COXPD6; MIM#300816) [3, 7], spondyloepimetaphyseal dysplasia with mental retardation (SEMD-MR; MIM#300232) [2], auditory neuropathy spectrum disorder (ANSD; MIM#300614) [8, 9]. CMTX4 is a rare subtype of Charcot-Marie-Tooth disease (CMT) associated with deafness and cognitive impairment [5].

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