Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth's Disease Type 2A.
Neuropediatrics
; 52(5): 351-357, 2021 10.
Article
in En
| MEDLINE
| ID: mdl-33578441
ABSTRACT
Charcot-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 â T (p.Lys357.Met) and c.280 C â 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Charcot-Marie-Tooth Disease
Type of study:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Child
/
Humans
Language:
En
Journal:
Neuropediatrics
Year:
2021
Document type:
Article
Affiliation country:
France