Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (n = 95) with a definitive genetic diagnosis, giving special emphasis on clinical muscle in...

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Bibliographic Details
Main Authors: Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch
Format: Article
Language:English
Published: MDPI AG 2019-01-01
Series:Journal of Clinical Medicine
Subjects:
mitochondrial diseases
myopathy
pediatric patients
biochemical markers
muscle histopathology
next generation sequencing
Online Access:http://www.mdpi.com/2077-0383/8/1/68

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http://www.mdpi.com/2077-0383/8/1/68

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