Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

Deborah Tolomeo; Anna Rubegni; Claudia Nesti; Melissa Barghigiani; Roberta Battini; Francesca D'Amore; Stefano Doccini; Maria Alice Donati; Daniele Galatolo; Sabrina Giglio; Silvia Guarducci; Marilena Pantaleo; Rosa Pasquariello; Elena Procopio; Francesca Pochiero; Alessandra Tessa; Filippo M M Santorelli

doi:10.1136/jmedgenet-2020-107644

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Diagnostics

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

Authors

Deborah Tolomeo Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy PubMed articles Google scholar articles
Anna Rubegni Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Claudia Nesti Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Melissa Barghigiani Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Roberta Battini Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy PubMed articles Google scholar articles
Francesca D'Amore Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Stefano Doccini Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Maria Alice Donati Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy PubMed articles Google scholar articles
Daniele Galatolo Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Sabrina Giglio Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy Unit of Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy PubMed articles Google scholar articles
Silvia Guarducci Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy PubMed articles Google scholar articles
Marilena Pantaleo Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy PubMed articles Google scholar articles
Rosa Pasquariello Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy PubMed articles Google scholar articles
Elena Procopio Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy PubMed articles Google scholar articles
Francesca Pochiero Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy PubMed articles Google scholar articles
Alessandra Tessa Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles
Filippo M M Santorelli Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy Molecular Medicine, IRCCS Stella Maris, Pisa, Italy PubMed articles Google scholar articles

Correspondence to Dr Filippo M M Santorelli, IRCCS Fondazione Stella Maris, Calambrone, Toscana, Italy; filippo3364{at}gmail.com

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Citation

Tolomeo D, Rubegni A, Nesti C, et al

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

Journal of Medical Genetics 2021;58:543-546.

Publication history

Received December 14, 2020
Accepted May 31, 2021
First published June 16, 2021.

Online issue publication

July 30, 2021

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