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Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.

DNA and cell biology - 1 Nov 2023

Asif Muhammad, Chiou Chien-Chun, Hussain Malik Fiaz, Hussain Manzoor, Sajid Zureesha, Gulsher Muhammad, Raheem Afifa, Khan Adil, Nasreen Nasreen, Kloczkowski Andrzej, Hassan Mubashir, Iqbal Furhan, Chen Chien-Chin

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects....

Topics

Humans
Charcot-Marie-Tooth Disease
Codon, Nonsense
Consanguinity
GTP Phosphohydrolases
Mitochondrial Proteins
Mutation
Neurodegenerative Diseases
Pakistan

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PMID: 37797217
DOI: 10.1089/dna.2023.0169
PMCID: PMC11262584

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