A 44-year-old man has been longitudinally followed for myoclonic dystonia (DYT11) due to a previously described heterozygous loss-of-function mutation involving a conserved residue in the epsilon-sarcoglycan gene (SGCE, NM_003919.2:c.1114C>T, p.Arg372Ter).1
from # All Medicine by Alexandros G. Sfakianakis via alkiviadis.1961 on Inoreader http://ift.tt/2weX1bv
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