Elena Faedo
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View article: Case report: A single novel calpain 3 gene variant associated with mild myopathy
Case report: A single novel calpain 3 gene variant associated with mild myopathy Open
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A…
View article: Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature Open
Sleep-disordered breathing has been reported in Charcot–Marie–Tooth disease (CMT) type 1A in association with diaphragmatic weakness and sleep apnea syndrome, mainly of the obstructive type (OSA). Improvement has been observed not only in …
View article: Skeletal muscle involvement in biallelic <i>SORD</i> mutations: case report and review of the literature.
Skeletal muscle involvement in biallelic <i>SORD</i> mutations: case report and review of the literature. Open
Biallelic 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…