Article

Biallelic variants in <i>ARHGAP19</i> cause a motor-predominant neuropathy with asymmetry and conduction slowing

2024-05-14

Abstract excerpt

Charcot-Marie-Tooth Disease is a clinically and genetically heterogeneous group of hereditary neuropathies, with over 100 causative genes identified to date. Despite progress in genetic sequencing, around a quarter of patients remain unsolved. Through international collaborations, we identified 16 recessive variants in Rho GTPase activating protein 19 ( ARHGAP19 ) causing motor-predominant neuropathy with conduct...

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Literature Corpus work: 34bd0ca3-83d3-50da-9ad5-14bc17fcccc4
DOI: 10.1101/2024.05.10.24306768

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