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

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
Main Authors: Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek
Format: Article
Language:English
Published: Termedia Publishing House 2024-07-01
Series:Advances in Psychiatry and Neurology
Subjects:
capn3
next-generation sequencing
myotonic dystrophy
muscular dystrophies
cnbp.
Online Access:https://www.termedia.pl/Co-occurrence-of-CAPN3-homozygous-mutation-and-CCTG-expansion-r-nin-the-CNBP-gene-in-a-patient-r-nwith-muscular-dystrophy,116,54456,1,1.html
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