Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy

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Bibliographic Details
Published in:Postępy psychiatrii neurologii 2024-06, Vol.33 (2), p.109-114
Main Authors: Radziwonik-Frączyk, Wiktoria, Elert-Dobkowska, Ewelina, Kubalska, Jolanta, Stępniak, Iwona, Lipowska, Marta, Potulska-Chromik, Anna, Sułek, Anna
Format: Article
Language:English
Subjects:
capn3
Case Report
cnbp
muscular dystrophies
myotonic dystrophy
next-generation sequencing
Online Access:Get full text
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ISSN:1230-2813
2720-5371
DOI:10.5114/ppn.2024.141382