Literature DB >> 29065428

Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases.

María José Navarro-Cobos1, Ariadna González-Del Angel2, Bernardette Estandia-Ortega2, Adriana Ruiz-Herrera3, Arturo Becerra4, Guadalupe Vargas-Ramírez5, Cesárea Bermúdez-López2, Miguel Angel Alcántara-Ortigoza2.   

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Year:  2017        PMID： 29065428     DOI： 10.1055/s-0037-1607054

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  2 in total

1.  Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.

Authors:  Angela J Lee; Karra A Jones; Russell J Butterfield; Mary O Cox; Chamindra G Konersman; Carla Grosmann; Jose E Abdenur; Monica Boyer; Brent Beson; Ching Wang; James J Dowling; Melissa A Gibbons; Alison Ballard; Joanne S Janas; Robert T Leshner; Sandra Donkervoort; Carsten G Bönnemann; Denise M Malicki; Robert B Weiss; Steven A Moore; Katherine D Mathews
Journal:  Neurol Genet       Date:  2019-03-01

2.  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.

Authors:  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
Journal:  Genes (Basel)       Date:  2019-10-29       Impact factor: 4.096
  2 in total

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