Abstract
have performed oral function and swallowing test (ST) with surface electrode EMG and videofluoroscopic examination of swallowing (VF) in two unrelated very mild FCMD patients, who were able to walk and step up-down stairs in their childhood. Genomic DNA analysis of these cases showed 3 kb-RT insertion and no mutation in coding region and exon–intron junction of this gene. However, the haplotype analysis of the FKTN gene with six microsatellite markers revealed these patients have different haplotype from other severe type of FCMD. The ST showed severe dysfunction of swallowing in contradiction to their facial appearance and behavioral state. These results indicate that there may be potential risk for dysphagia and the periodical examination of ST is important for keeping the quality of life even in the very mild case of FCMD.
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