Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Author:

Iuso Arcangela,Wiersma Marit,Schüller Hans-Joachim,Pode-Shakked Ben,Marek-Yagel Dina,Grigat Mathias,Schwarzmayr Thomas,Berutti Riccardo,Alhaddad Bader,Kanon Bart,Grzeschik Nicola A.,Okun Jürgen G.,Perles Zeev,Salem Yishay,Barel Ortal,Vardi Amir,Rubinshtein Marina,Tirosh Tal,Dubnov-Raz Gal,Messias Ana C.,Terrile Caterina,Barshack Iris,Volkov Alex,Avivi Camilla,Eyal Eran,Mastantuono Elisa,Kumbar Muhamad,Abudi Shachar,Braunisch Matthias,Strom Tim M.,Meitinger Thomas,Hoffmann Georg F.,Prokisch Holger,Haack Tobias B.,Brundel Bianca J.J.M.,Haas Dorothea,Sibon Ody C.M.,Anikster Yair

Funder

German BMBF

Horizon2020

Horizon2020 Project SOUND

German Network for Mitochondrial Disorders

German Center for Heart Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference37 articles.

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3. Neurodegeneration with brain iron accumulation: diagnosis and management;Hogarth;J. Mov. Disord.,2015

4. Mutational analysis of COASY in an Italian patient with NBIA;Annesi;Parkinsonism Relat. Disord.,2016

5. Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger’s eye;Evers;Am. J. Med. Genet. A.,2017

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