MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Author:

Heimer Gali,Kerätär Juha M.,Riley Lisa G.,Balasubramaniam Shanti,Eyal Eran,Pietikäinen Laura P.,Hiltunen J. Kalervo,Marek-Yagel Dina,Hamada Jeffrey,Gregory Allison,Rogers Caleb,Hogarth Penelope,Nance Martha A.,Shalva Nechama,Veber Alvit,Tzadok Michal,Nissenkorn Andreea,Tonduti Davide,Renaldo Florence,Kraoua Ichraf,Panteghini Celeste,Valletta Lorella,Garavaglia Barbara,Cowley Mark J.,Gayevskiy Velimir,Roscioli Tony,Silberstein Jonathon M.,Hoffmann Chen,Raas-Rothschild Annick,Tiranti Valeria,Anikster Yair,Christodoulou John,Kastaniotis Alexander J.,Ben-Zeev Bruria,Hayflick Susan J.,Bamshad Michael J.,Leal Suzanne M.,Nickerson Deborah A.,Anderson Peter,Annable Marcus,Blue Elizabeth Marchani,Buckingham Kati J.,Chin Jennifer,Chong Jessica X.,Cornejo Rodolfo,Davis Colleen P.,Frazar Christopher,He Zongxiao,Jarvik Gail P.,Jimenez Guillaume,Johanson Eric,Kolar Tom,Krauter Stephanie A.,Luksic Daniel,Marvin Colby T.,McGee Sean,McGoldrick Daniel J.,Patterson Karynne,Perez Marcos,Phillips Sam W.,Pijoan Jessica,Robertson Peggy D.,Santos-Cortez Regie,Shankar Aditi,Slattery Krystal,Shively Kathryn M.,Siegel Deborah L.,Smith Joshua D.,Tackett Monica,Wang Gao,Wegener Marc,Weiss Jeffrey M.,Wernick Riana I.,Wheeler Marsha M.,Yi Qian

Funder

Israel Science Foundation

Pinchas Borenstein Talpiot Medical Leadership Program

Sigrid Juselius Foundation

Academy of Finland

NBIA Disorders Association

National Human Genome Research Institute

National Heart, Lung and Blood Institute

New South Wales Office of Health and Medical Research Council Sydney Genomics

NHMRC

Cancer Institute NSW

Kinghorn Foundation

Crane

Perkins families

Pierfranco and Luisa Mariani Foundation

TELETHON Italy

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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