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Items: 4

1.
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing
Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García
Genes (Basel) 2019 Nov; 10(11): 856. Published online 2019 Oct 29. doi: 10.3390/genes10110856
PMCID:
PMC6895915
AbstractArticlePDF–783K
2.
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene
Soudeh GHAFOURI-FARD, Feyzollah HASHEMI-GORJI, Majid FARDAEI, Mohammad MIRYOUNESI
Iran J Child Neurol. 2017 Summer; 11(3): 57–60.
PMCID:
PMC5582362
AbstractArticlePDF–779K
3.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová, Lenka Fajkusová
BMC Neurol. 2014; 14: 154. Published online 2014 Aug 19. doi: 10.1186/s12883-014-0154-7
PMCID:
PMC4145250
AbstractArticlePDF–238K
4.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
Richard R Bennett, Hal E Schneider, Elicia Estrella, Stephanie Burgess, Andrew S Cheng, Caitlin Barrett, Va Lip, Poh San Lai, Yiping Shen, Bai-Lin Wu, Basil T Darras, Alan H Beggs, Louis M Kunkel
BMC Genet. 2009; 10: 66. Published online 2009 Oct 18. doi: 10.1186/1471-2156-10-66
PMCID:
PMC2781300
AbstractArticlePDF–698K

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