Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.
CMT2CC
NEFH
hereditary neuropathy
proximal weakness
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
revised:
06
05
2021
received:
02
04
2021
accepted:
08
05
2021
pubmed:
15
5
2021
medline:
15
2
2022
entrez:
14
5
2021
Statut:
ppublish
Résumé
Charcot-Marie-Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain (NEFH) gene have been described to cause the CMT2CC subtype. Here we report the first Italian patient affected by CMT2CC, harboring a novel variant in NEFH. In describing our patient, we also reviewed previously CMT2CC individuals, and suggested to consider NEFH variant if patients have an axonal sensory-motor neuropathy with a prominent proximal muscles involvement with early requirement of walking aids or wheelchair, remembering a motor neuron disorder.
Substances chimiques
Neurofilament Proteins
0
Proteins
0
neurofilament protein H
108688-71-7
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
231-234Informations de copyright
© 2021 Peripheral Nerve Society.
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