18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
2 citations,
January 2018 in “Open journal of stomatology” Tongue cancer cells show more plectin-1 than non-cancer cells, but both have similar levels of trichohyalin.