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  • Histopathologic and molecular pathologic findings were examined in 14 LGMD2A patients. Analysis of the CAPN3 gene was performed at the mRNA level and/or DNA level. Immunoblot analysis revealed the deficiency of p94 in all genetically confirmed cases, and secondary dysferlin deficiency was demonstrated in 6 patients. In muscle tissues of two patients, a neurogenic pattern simulating neurogenic lesion was observed.
  • Histopathologic and molecular pathologic findings were examined in 14 LGMD2A patients. Analysis of the CAPN3 gene was performed at the mRNA level and/or DNA level. Immunoblot analysis revealed the deficiency of p94 in all genetically confirmed cases, and secondary dysferlin deficiency was demonstrated in 6 patients. In muscle tissues of two patients, a neurogenic pattern simulating neurogenic lesion was observed. (en)
Title
  • Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients
  • Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients (en)
skos:prefLabel
  • Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients
  • Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients (en)
skos:notation
  • RIV/00216224:14310/06:00017994!RIV10-MSM-14310___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR8087), Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika
  • March
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...dnocenehoVysledku
  • 464935
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14310/06:00017994
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • LGMD2A; muscle biopsy; mutational analysis; neurogenic pattern (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [ADB2C66DE6AD]
http://linked.open...i/riv/nazevZdroje
  • Muscle & Nerve
http://linked.open...in/vavai/riv/obor
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http://linked.open...vavai/riv/projekt
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http://linked.open...v/svazekPeriodika
  • 33
http://linked.open...iv/tvurceVysledku
  • Fajkusová, Lenka
  • Hermanová, Markéta
  • Sedláčková, Jana
  • Voháňka, Stanislav
  • Zámečník, Josef
  • Vondráček, Petr
  • Mazanec, Radim
  • Maříková, Taťána
  • Letocha, Ondřej
  • Zapletalová, Eva
  • Kroupová, Iva
  • Chrobáková, Táňa
http://linked.open...ain/vavai/riv/wos
  • 000235646300015
http://linked.open...n/vavai/riv/zamer
issn
  • 0148-639X
number of pages
http://localhost/t...ganizacniJednotka
  • 14310
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