Open AccessJuvenile tay sachs disease due to compound heterozygous mutation in Hex-A gene, with early sign of bilateral tremors
Author(s) -
Jayesh Sheth,
Ira Mohapatra,
Gangotri Patra,
Riddhi Bhavsar,
Chandni Patel,
Siddharth Shah,
Aadhira Nair
Publication year - 2022
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_577_21
Subject(s) - medicine , sandhoff disease , ataxia , pediatrics , compound heterozygosity , proband , age of onset , atrophy , hexa , disease , mutation , psychiatry , genetics , chemistry , medicinal chemistry , biology , gene