Claude Prévost

TL;DR: Life expectancy is greatly reduced in DM patients, particularly in those with early onset of the disease and proximal muscular involvement, and the high mortality reflects an increase in death rates from respiratory diseases, cardiovascular diseases, neoplasms, and sudden deaths presumably from cardiac arrhythmias.

TL;DR: These findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC 12A6 in the development and maintenance of the nervous system.

TL;DR: All patients in the SLSJ area are traced back to a couple who settled in "Nouvelle-France" in 1657 and the MyD gene was then passed on over 10 to 14 generations, a strong argument in favor of the genetic homogeneity of MyD in theSLSJ region.

TL;DR: The variable severity of the muscular involvement, and the absence of relationship between age at onset and rate of disease progression, suggest a multiallelic influence at the DM locus or at other loci.