Manuela C. Koch

TL;DR: An unusual restriction site in the CLC-1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8, which suggests that different mutations in C LC-1 may cause dominant or recessive myotonia.

TL;DR: The clinical and molecular parallels between DM1 and DM2 indicate that the multisystemic features common to both diseases are caused by CUG or CCUG expansions expressed at the RNA level.

TL;DR: It is shown that p53 directly binds and activates the PIG3 promoter, but not through the previously described DNA element, which is the first time that a microsatellite has been shown to mediate the induction of a promoter through direct interaction with a transcription factor.

TL;DR: Three families with a dominantly inherited disorder with myotonia, proximal muscle weakness, and cataracts are described, and the collection of symptoms seems to represent a new disorder.

TL;DR: It is proposed that in FSHD, quantitative variation in a uniform mutation mechanism influences age at onset, but by deletion rather than expansion of DNA.