Congenital myopathy and epidermolysis bullosa due to PLEC variant |
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| Institution: | 1. Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany;2. Medical Genetics Centre, Munich, Germany;3. Department of Neuropathology, Charité University, Berlin, and Johannes-Gutenberg University, Mainz, Germany |
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| 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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