Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions-Reference-Cited by-同舟云学术

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Published:2020-07-22 Issue:10 Volume:41 Page:1745-1750
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marchet Silvia¹,Legati Andrea¹,Nasca Alessia¹,Di Meo Ivano¹,Spagnolo Manuela¹,Zanetti Nadia¹,Lamantea Eleonora¹,Catania Alessia¹,Lamperti Costanza¹,Ghezzi Daniele¹²^ORCID

Affiliation:

1. Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy

2. Dipartimento di Fisiopatologia Medico‐Chirurgica e dei Trapianti Università degli Studi di Milano Milano Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24081

Reference24 articles.

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5. Diagnostic Accuracy of Muscle Biopsy and Electromyography in 123 Patients with Neuromuscular Disorders

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