6533b862fe1ef96bd12c75a5

RESEARCH PRODUCT

Congenital myopathy and epidermolysis bullosa due to PLEC variant

Angela AbichtStefanie GehlingPeter ReilichSabine KrauseBenedikt SchoserHans H. GoebelMaggie C. WalterMiriam Hiebeler

subject

medicine.medical_specialtybusiness.industryGenetic variantsmedicine.diseaseDermatologyCongenital myopathyPlectin GeneEpidermolysis bullosa simplexUnknown SignificanceNeurologySkin blisteringPediatrics Perinatology and Child HealthmedicineNeurology (clinical)Epidermolysis bullosamedicine.symptomMyopathybusinessGenetics (clinical)

description

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.

yearjournalcountryeditionlanguage
2021-11-01Neuromuscular Disorders
https://doi.org/10.1016/j.nmd.2021.09.009