Comment when marking as ready: No association with arthrogryposis
Created: 22 Dec 2016, 4:02 p.m.
one case report. Associated with epidermolysis bullosa. More case reports of EB with later onset muscular/ limb girdle MD. Also rports of myasthenic type symptoms in some.
Created: 19 Dec 2016, 11:47 a.m.
Muscular dystrophy with epidermolysis bullosa simplex, 226670
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
PLEC was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen PLEC was added to Arthrogryposispanel. Source:
PLEC was created by ellenmcdonagh
PLEC was added to Arthrogryposispanel. Sources: Expert list