Article
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Pediatric neurology - 1 May 2024
Geroldi Alessandro, Ponti Clarissa, Mammi Alessia, Patrone Serena, Gotta Fabio, Trevisan Lucia, Sanguineri Francesca, Origone Paola, Gaudio Andrea, La Barbera Andrea, Cataldi Matteo, Gemelli Chiara, Massucco Sara, Schenone Angelo, Lanteri Paola, Fiorillo Chiara, Grandis Marina, Mandich Paola, Bellone Emilia
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging. METHODS: During the last 24 years we recruited 223 patients with...
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