{Reference Type}: Case Reports
{Title}: Congenital myopathy and epidermolysis bullosa due to PLEC variant.
{Author}: Walter MC;Reilich P;Krause S;Hiebeler M;Gehling S;Goebel HH;Schoser B;Abicht A;
{Journal}: Neuromuscul Disord
{Volume}: 0
{Issue}: 0
{Year}: Sep 2021 30
{Factor}: 3.538
{DOI}: 10.1016/j.nmd.2021.09.009
{Abstract}: We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.