Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.

ABSTRACT:

Background

Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.

Methods

Families from Khyber Pakhtunkhwa with at least two memb

SUBMITTER: Ahmed AN 

PROVIDER: S-EPMC11481789 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature