Plectinophathy

Last updated on: 15.01.2022

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Definition
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In humans,plectin is encoded by the plectin gene(PLEC, PLEC1), which is located on chromosome 8 (8q24.3). Mutations in PLEC cause several rare diseases grouped under the term plectinopathies . The most common disease is autosomal recessive inherited epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characterized by blistering of the skin and progressive muscle weakness (Winter L et al. 2016).

S.u. plectin

S.u. PLEC gene

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 15.01.2022

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