Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).
Charcot-Marie-Tooth disease
MFN2 protein
Neuromuscular diseases
genetic variation
hereditary sensory and motor neuropathy
human
pathogenicity
phenotype
type 2A
Journal
Journal of neuromuscular diseases
ISSN: 2214-3602
Titre abrégé: J Neuromuscul Dis
Pays: Netherlands
ID NLM: 101649948
Informations de publication
Date de publication:
2019
2019
Historique:
entrez:
26
5
2019
pubmed:
28
5
2019
medline:
18
12
2019
Statut:
ppublish
Résumé
Mutations in MFN2 cause a range of Charcot-Marie-Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) mutation in MFN2 has been reported for the first time. Here, we report a second family also with a dominantly inherited CMT harboring the same mutation, thereby confirming the pathogenicity of this mutation. Interestingly, the disease onset of this second family is much later than the previously reported cases.
Identifiants
pubmed: 31127728
pii: JND190384
doi: 10.3233/JND-190384
doi:
Substances chimiques
Mitochondrial Proteins
0
GTP Phosphohydrolases
EC 3.6.1.-
MFN2 protein, human
EC 3.6.1.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM