Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
Abstract Background Charcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients. Methods This study was performed to identify pathogenic mutations in five con...
Main Authors: | Sumaira Kanwal, Yu JIn Choi, Si On Lim, Hee Ji Choi, Jin Hee Park, Rana Nuzhat, Aneela khan, Shazia Perveen, Byung-Ok Choi, Ki Wha Chung |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-06-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12920-021-01019-5 |
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