Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

doi:10.1002/mgg3.2480

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Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Molecular genetics & genomic medicine - 1 Jul 2024

Martinez-Montoya Valentina, Sánchez-Sánchez Luz María, Sandoval-Pacheco Roberto, Castro Diana Mónica Anaya, Arellano-Valdez Carmen Araceli, Ávila-Rejón Carmen Amor, Aguilar-Juárez Pedro Alejandro, Espino-Pluma Martín, González-Santillanes Cruz Antonio, Martínez-Segovia Rosa Isela, Olmos-Morfin Dorian, la Torre Ofelia Padilla-De, Solís-Sánchez Ishar, Espinosa Mónica Vázquez-Del Mercado, Villarroel-Cortés Camilo Ernesto, Velarde-Félix Jesús Salvador, López-Valdez Jaime, Olaiz-Urbina Julio, Ricárdez-Marcial Edgar, Vergara-Sánchez Imelda, Radillo-Díaz Pablo, Kazakova Ekaterina, De la Fuente-Cortez Beatriz, Del Carmen Marquez-Quiróz Luz, Torres-Octavo Benjamín, Diaz-Martinez Rubicel

Abstract excerpt

BACKGROUND: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients. METHODS: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. RESULTS: Twenty-nine patients were included in the...

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PMID: 38958145
DOI: 10.1002/mgg3.2480
PMCID: PMC11220502

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