Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency-Reference-Cited by-同舟云学术

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

Published:2024-08 Issue:4 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Rötig Agnès¹^ORCID,Gaignard Pauline¹^ORCID,Barcia Giulia¹^ORCID,Assouline Zahra¹,Berat Claire-Marine¹^ORCID,Barth Magalie¹,Damaj Léna¹^ORCID,Laborde Nolwenn¹^ORCID,Abi-Warde Marie-Thérèse¹,Chabrol Brigitte¹^ORCID,De Lonlay Pascale¹^ORCID,Desguerre Isabelle¹^ORCID,Goldenberg Alice¹,Gonzales Emmanuel¹,Jacquemin Emmanuel¹^ORCID,Amati -Bonneau Patrizia¹^ORCID,Bonneau Dominique¹,Abadie Véronique¹^ORCID,Bonnemains Chrystèle¹,Broue Pierre¹,De Saint-Martin Anne¹,Durand Philippe¹,Fouilhoux Alain¹,Isidor Bertrand¹^ORCID,Jaroussie Marianne¹^ORCID,Jedraszak Guillaume¹^ORCID,Maurey Hélène¹,Mention Karine¹,Odent Sylvie S.¹^ORCID,Pasquier Laurent¹^ORCID,Rougeot-Jung Christelle¹,Gitiaux Cyril¹^ORCID,Roux Charles-Joris¹^ORCID,Boddaert Nathalie¹^ORCID,Munnich Arnold¹^ORCID,Schiff Manuel¹^ORCID

Affiliation:

1. From the Université Paris Cité (A.R., M.S.), Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR 1163; Centre de Référence des Maladies Mitochondriales (A.R., P.G., G.B., Z.A., C.-M.B., M.B., M.-T.A.-W., P.D.L., I.D., E.G., E.J., A.D.S.-M., N.B., A.M., M.S.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Biochimie (P.G.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Service de médecine génomique des maladies rares (G.B., Z.A.), AP-HP, Hôpital Necker-Enfants Malades, Paris;...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200167

Reference22 articles.

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4. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

5. Cloning and Characterization of the Human Mitochondrial DNA Polymerase, DNA Polymerase γ