Clinical and genetic analysis of A father-son duo with monomelic amyotrophy: Case report

Clinical and genetic analysis of A father-son duo with monomelic amyotrophy: Case report

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...

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Bibliographic Details
Main Authors: Shiffali Khurana, Abhishek Vats, Mandaville Gourie-Devi, Ankkita Sharma, Sagar Verma, Mohammed Faruq, Uma Dhawan, Vibha Taneja
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
arpp21
familial monomelic amyotrophy
ryr3
slit1
whole exome sequencing
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=6;spage=983;epage=988;aulast=Khurana

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=6;spage=983;epage=988;aulast=Khurana

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