Article
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Journal of neuromuscular diseases - 1 Jan 2024
Kulsirichawaroj Pimchanok, Suksangkharn Yanin, Nam Da Eun, Pho-Iam Theeraphong, Limwongse Chanin, Chung Ki Wha, Sanmaneechai Oranee, Zuchner Stephan L, Choi Byung-Ok
Abstract excerpt
BACKGROUND: Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads to long-term disability and poses a substantial healthcare burden on society. OBJECTIVE: This study aimed to investigate the distribution of genes and establish the genotype-phenotype correlations, focusing on pediatric-onset cases. METHODS:...
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