Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot–Marie–Tooth (CMT) Disease

Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot–Marie–Tooth (CMT) Disease

Abstract Background Charcot–Marie–Tooth (CMT) is a clinically, electro-physiologically, and genetically heterogenous group of muscle disease which is also known as hereditary motor and sensory neuropathy. Autosomal recessive forms of CMT type 4A have been reported with either homozygous or compound...

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Main Authors: Laxmi Kirola, Deepika Joshi, Souradip Chatterjee, Madhusudan Tapadia, Ashim Mukherjee, Mousumi Mutsuddi
Format: Article
Language:English
Published: SpringerOpen 2025-05-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Charcot–Marie–Tooth type 4 A
Copy number variation
Targeted exome sequencing
Ganglioside-induced differentiation-associated protein-1
Compound heterozygous mutation
Online Access:https://doi.org/10.1186/s43042-025-00718-3
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https://doi.org/10.1186/s43042-025-00718-3

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