Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Per Harald JonsonJ PalmioMridul JohariS PenttiläA EviläI NelsonG BonneN WiartV MeyerA BolandJ-F DeleuzeC MassonT StojkovicF ChaponN B RomeroG SoléX FerrerA FerreiroP HackmanI RichardB UddPublished in: European journal of neurology (2018)
The mutational and phenotypical spectrum of DNAJB6-caused muscle disease is larger than previously reported, including also dysphagia. The originally reported c.279C>G (p.Phe93Leu) mutation is now identified in four different populations and appears to be a mutational hotspot. Our report confirms that some DNAJB6 mutations cause distal-onset myopathy and hence DNAJB6 defects should be considered broadly in dominant muscular dystrophy families.