Search results for "Congenital myopathy"

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Congenital myopathy and epidermolysis bullosa due to PLEC variant

2021

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.

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

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