Publications
Authorea Jan 2021 DOI:
10.22541/au.161717219.91860119

Two Novel Biallelic Variants in TECPR2 and FA2H Genes Causing Complicated Hereditary Spastic Paraplegia in Iranian families from lur Ethnicity: Case Series.

Edizadeh, M; Chegeninezhad, N; Akbari, S
Product Used
NGS
Abstract
We herein report first Iranian families with spastic paraplegia 35 and 49 and claim that TECPR2 gene causes complicated spastic paraplegia 49 with or without sensory autonomic neuropathy. In addition, we show how coexistence of SPG49 and griscelli syndrome can lead to misdiagnosis.
Product Used
NGS

Related Publications