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

Author:

Majorel-Beraud C.1,Baudou E.1,Walther-Louvier U.2,Espil-Taris C.3,Beze-Beyrie P.4,Cintas P.5,Rivier F.2,Cances C.1

Affiliation:

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

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

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

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

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

Abstract

AbstractCharcot–Marie–Tooth's disease type 2A (MCT2A), induced by mutation of the mitofusin 2 (MFN2) gene represents the main cause of MCT2. The aim of this study is to provide details of the clinical and electromyographic phenotype of MCT2A in a pediatric population. We conducted a French multicenter retrospective study, including all children with a genetic diagnosis of MCT2A. Thirteen MCT2A children were included with a beginning of symptoms before the age of 10 years (“early-onset group”). We report two new mutations: c.1070 A → T (p.Lys357.Met) and c.280 C → G (p.Arg94Gly). The evolution of the disease is marked by a fast worsening for three patients with loss of motor autonomy, while the evolution is relatively stable for eight patients. The group of early-onset MCT2A seems more heterogeneous than previously described, with a nonconstant severe phenotype.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

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