A de novo C19orf12 heterozygous mutation in a patient with MPAN-Reference-Cited by-同舟云学术

A de novo C19orf12 heterozygous mutation in a patient with MPAN

Published:2018-03 Issue: Volume:48 Page:109-111
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Monfrini Edoardo,Melzi Valentina,Buongarzone Gabriele,Franco Giulia,Ronchi Dario,Dilena Robertino,Scola Elisa,Vizziello Paola,Bordoni Andreina,Bresolin Nereo,Comi Giacomo Pietro,Corti Stefania,Di Fonzo Alessio^ORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference4 articles.

1. Mitochondrial membrane protein-associated neurodegeneration (MPAN);Hartig;Int. Rev. Neurobiol.,2013

2. The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN;Olgiati;Park. Relat. Disord.,2017

3. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN;Hogarth;Neurology,2013

4. C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation;Panteghini;Semin. Pediatr. Neurol.,2012

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