Congenital myopathy and epidermolysis bullosa due to PLEC variant

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. (C) 2021 Elsevier B.V. All rights reserved.

Automated summary

This study reports on an adult Turkish patient with mild myopathy, fiber-type disproportion, and mitochondrial disorganization caused by genetic variants in the plectin gene. Two unknown significance variants were identified through molecular genetic panel testing, and the patient also exhibited mild skin blistering.