Charcot-Marie-Tooth Disease Research 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
Neurobiol Dis. 2024 Mar 5:106467. doi: 10.1016/j.nbd.2024.106467. Online ahead of print.ABSTRACTMutations in the gene encoding MFN2 have been identified as associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system. MFN2, a dynamin-like GTPase protein located on the outer mitochondrial membrane, is well-known for its involvement in mitochondrial fusion. Numerous studies have demonstrated its participation in a network crucial for various other mitochondrial functions, including mitophagy, axonal transport, and its cont...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Claudia Alberti Federica Rizzo Alessia Anastasia Giacomo Comi Stefania Corti Elena Abati Source Type: research
Skeletal muscle involvement in biallelic < em > SORD < /em > mutations: case report and review of the literature
Acta Myol. 2023 Dec 20;42(4):113-117. doi: 10.36185/2532-1900-323. eCollection 2023.ABSTRACTBiallelic mutations in the sorbitol dehydrogenase (SORD) gene have been identified as a genetic cause of autosomal recessive axonal Charcot-Marie-Tooth disease 2 (CMT2) and distal hereditary motor neuropathy (dHMN). We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpatient clinic for a slowly worsening gait disorder with wasting and weakness of distal lower limbs musculature. Since creatine phosphokinase (CPK) values were persistently raised (1.5fo...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Sara Massucco Chiara Gemelli Emilia Bellone Alessandro Geroldi Serena Patrone Paola Mandich Elena Scarsi Elena Faedo Lucio Marinelli Tiziana Mongini Monica Traverso Serena Baratto Angelo Schenone Chiara Fiorillo Marina Grandis Source Type: research
