Shiffali Khurana, Abhishek Vats, Mandaville Gourie-Devi, Ankkita Sharma, Sagar Verma, Mohammed Faruq, Uma Dhawan, Vibha Taneja
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...
2023: Annals of Indian Academy of Neurology