A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
CMT2A
Charcot-Marie-Tooth disease Type 2
Late-onset axonal neuropathy
Multigenerational affection
Variable penetrance
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
04
08
2018
revised:
17
12
2018
accepted:
17
12
2018
pubmed:
16
1
2019
medline:
30
4
2020
entrez:
16
1
2019
Statut:
ppublish
Résumé
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. In affected family members, electromyography showed moderate to severe, chronic denervation in distal muscles. Such variable clinical severity highlights the need to do careful assessments of at risk individuals when assessing MFN2 variants.
Identifiants
pubmed: 30642740
pii: S0960-8966(18)31085-X
doi: 10.1016/j.nmd.2018.12.008
pmc: PMC6415944
mid: NIHMS1517187
pii:
doi:
Substances chimiques
Mitochondrial Proteins
0
GTP Phosphohydrolases
EC 3.6.1.-
MFN2 protein, human
EC 3.6.1.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
134-137Subventions
Organisme : NINDS NIH HHS
ID : R01 NS107851
Pays : United States
Organisme : NINDS NIH HHS
ID : R21 NS104874
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Informations de copyright
Copyright © 2018 Elsevier B.V. All rights reserved.
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