A 10-year-old boy presents with peroneal muscular atrophy (Charcot-Marie-Tooth syndrome). He has weakness in his legs and atrophied calf and hand muscles. Additionally, he lost some heat, pain, and cold sensation in his feet and hands. This common hereditary neuropathy is the result of a mutation in the gene coding for

Question

Quizplus · Accepted Answer

Charcot-Marie-Tooth syndrome, a hereditary neuropathy, is often associated with mutations in the gene coding for connexins, specifically connexin 32. Connexins are crucial for the formation of gap junctions, which are essential for cell-to-cell communication in the nervous system.

A 10-Year-Old Boy Presents with Peroneal Muscular Atrophy (Charcot-Marie-Tooth Syndrome)