Article

Bi-allelic mutations in <i>KCTD11</i> cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease

2025-07-04

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder, characterized by progressive, length-dependent degeneration of peripheral nerves, resulting in distal muscle atrophy and weakness, foot and hand deformities, and sensory deficits. The disease is clinically and genetically heterogeneous, with over 125 disease-causing genes identified to date. Here, genetic studies in ten patients...

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Literature Corpus work: 24851da6-7474-5ed5-b840-232ad90faace
DOI: 10.1101/2025.06.30.661538

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Bi-allelic mutations in <i>KCTD11</i> cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth diseaseDOI 10.1101/2025.06.30.661538Read

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