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Updated: Oct 15, 2025

Granulocyte-dependent Autoantibody-induced Skin Blistering
Published on: October 12, 2012
Congenital myopathy and epidermolysis bullosa due to PLEC variant
Maggie C Walter1, Peter Reilich1, Sabine Krause1
1Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany.
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.
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