A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation—a single exon 48 deletion of the dystrophin gene—who were affected with a very mild or subclinical form of BMD. They were usually detected...

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Udgivet i:J Appl Genet
Main Authors: Zimowski, Janusz G., Pilch, Jacek, Pawelec, Magdalena, Purzycka, Joanna K., Kubalska, Jolanta, Ziora-Jakutowicz, Karolina, Dudzińska, Magdalena, Zaremba, Jacek
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2017
Fag:
Human Genetics • Original Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509810/
https://ncbi.nlm.nih.gov/pubmed/28247318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-017-0391-8
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