Article
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.
Journal of the peripheral nervous system : JPNS - 1 Dec 2024
Geroldi Alessandro, La Barbera Andrea, Mammi Alessia, Origone Paola, Gaudio Andrea, Ponti Clarissa, Sanguineri Francesca, Matà Sabrina, Sperti Martina, Carboni Ilaria, Bellone Emilia, Gotta Fabio, Gemelli Chiara, Massucco Sara, Valeria Guglielmino, Marinelli Lucio, Grandis Marina, Bisogni Giulia, Sabatelli Mario, Piscosquito Giuseppe, Esposito Gabriella, Schenone Angelo, Manganelli Fiore, Mandich Paola, Tozza Stefano, Luigetti Marco
Abstract excerpt
BACKGROUND AND AIMS: Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late-onset recessive CMT2 (CMT2T). More recently, heterozygous mutations have also been identified in familial and sporadic patients with late-onset axonal neuropathy, ranging from subclinical to severe. This indicates that the heterozygous MME variants may not be fully penetrant, or...
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