학술논문
Clinical and genetic analysis of A father-son duo with monomelic amyotrophy: Case report.
Document Type
Article
Author
Source
Subject
*ARM physiology
*MUSCULAR atrophy
*GENETICS
*SEQUENCE analysis
*NEURONS
*CELLULAR signal transduction
*GENETIC markers
*RARE diseases
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Language
ISSN
0972-2327
Abstract
Monomelic Amyotrophy (MMA) is a rare neurological disorder restricted to one upper limb, predominantly affecting young males with an unknown aetiopathogenesis. We report a familial case of father-son duo affected by MMA. Whole exome sequencing identified genetic variations in SLIT1, RYR3 and ARPP21 involved in axon guidance, calcium homeostasis and regulation of calmodulin signaling respectively. This is the first attempt to define genetic modifiers associated with MMA from India and advocates to extend genetic screening to a larger cohort. Deciphering the functional consequences of variations in these genes will be crucial for unravelling the pathogenesis of MMA. [ABSTRACT FROM AUTHOR]