Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease

We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote missense mutation c.278 T > A in exon 2 of the GJB1 gene, with lysine at position 93 of the mature protein (p.M93K). This is the first CMT case with alopecia areata reported in the world.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research