Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth's Disease Type 2A.

Charcot-Marie-Tooth Disease / diagnosis Child GTP Phosphohydrolases / genetics Humans Mitochondrial Proteins / genetics Mutation Phenotype Retrospective Studies

Journal

Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187

Informations de publication

Date de publication:
10 2021
Historique:
pubmed: 13 2 2021
medline: 7 4 2022
entrez: 12 2 2021
Statut: ppublish

Résumé

Charcot-Marie-Tooth's disease type 2A (MCT2A), induced by mutation of the mitofusin 2 (

Identifiants

DOI: 10.1055/s-0041-1723759 PMID: 33578441
pubmed: 33578441
doi: 10.1055/s-0041-1723759
doi:

Substances chimiques

Mitochondrial Proteins 0
GTP Phosphohydrolases EC 3.6.1.-

Types de publication

Journal Article Multicenter Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

351-357

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

None declared.

Auteurs

C Majorel-Beraud (C)

Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, Toulouse University Hospital Center, Toulouse, France.

E Baudou (E)

Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, Toulouse University Hospital Center, Toulouse, France.

U Walther-Louvier (U)

Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, Montpellier University Hospital Center, Montpellier, France.

C Espil-Taris (C)

Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, University Hospital Center Pellegrin, Bordeaux, France.

P Beze-Beyrie (P)

Unit of Pediatrics, Centre Hospitalier de Pau, Pau, France.

P Cintas (P)

Department of Neurology, Pierre Paul Riquet Hospital, University Hospital Center Purpan, Toulouse, France.

F Rivier (F)

Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, Montpellier University Hospital Center, Montpellier, France.

C Cances (C)

Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, Toulouse University Hospital Center, Toulouse, France.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Maladie de Charcot-Marie-Tooth › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Acid anhydride hydrolases › dGTPases › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Clinical Phenotype in an Early-Onset French...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Clinical Phenotype in an Early-Onset French...