Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
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ABSTRACT:
SUBMITTER: Abati E
PROVIDER: S-EPMC9008012 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
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Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Abati Elena E Manini Arianna A Velardo Daniele D Del Bo Roberto R Napoli Laura L Rizzo Federica F Moggio Maurizio M Bresolin Nereo N Bellone Emilia E Bassi Maria Teresa MT D'Angelo Maria Grazia MG Comi Giacomo Pietro GP Corti Stefania S
Scientific reports 20220413 1
Charcot-Marie-Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane. We performed a cross-sectional analysis on thirteen patients carrying mutations in MFN2, from ten families, describing their clinical and genetic characteristics. Evaluated patients presented a variable age of onset and a wide phenotypic spectrum, with most patients presenting a severe phenotype ...[more]
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