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A Family with Subclinical Charcot-Marie-Tooth Disease Associated with a Mutatio...

Madureira, Beatriz; Correia, Isa; Correia, Hildeberto; Cruz, Simão

Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy characterized by progressive motor and sensory impairment. Mutations in the myelin protein zero (MPZ) gene are the second most common cause of CMT and are often associated with severe clinical presentations. We describe the case of a 31-year-old woman who had an incidental diagnosis of an intermediate neuropathy on nerve conduction studies, without an...

Date: 2026   |   Origin: SINAPSE
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