Pediatric stroke-like episodes temporally associated with pollen exposure in GJB1-related CMTX1: an expanded family case report with serial MRI and DTI follow-up
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Background: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), caused by pathogenic variants in GJB1 encoding connexin 32, is primarily an inherited peripheral neuropathy. A minority of patients develop transient central nervou... ...
