Article

Novel homozygous mutations in Pakistani families with recessive Charcot-Marie-Tooth disease

2021-03-04

Abstract excerpt

<title>Abstract</title> <p>Background Charcot-Marie-Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous disorders. Few studies have identified genetic causes in the Pakistani CMT patients. Methods This study was performed to identify pathogenic mutations in five consanguineous Pakistani CMT families negative for <italic>PMP22</italic> duplication. Genomic screening was...

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Literature Corpus work: 8a07fc36-1918-543a-a4e1-f3972ee9c8e4
DOI: 10.21203/rs.3.rs-279595/v1

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