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

BMC medical genomics - 30 Jun 2021

Kanwal Sumaira, Choi Yu JIn, Lim Si On, Choi Hee Ji, Park Jin Hee, Nuzhat Rana, Khan Aneela, Perveen Shazia, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

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 consanguineous Pakistani CMT families negative for PMP22 duplication. Genomic screening was performed by application of whole...

Topics

Humans
Charcot-Marie-Tooth Disease
Pakistan
Homozygote
Male
Mutation
Female
Pedigree
Exome Sequencing
Adult
Consanguinity
Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

GTP Phosphohydrolases

Child

Mitochondrial Proteins

Intracellular Signaling Peptides and Proteins

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Open in PubMed Open full text

Identifiers

PMID: 34193129
DOI: 10.1186/s12920-021-01019-5
PMCID: PMC8247155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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