Two novel biallelic variants in TECPR2 and FA2H genes causing complicated hereditary spastic paraplegia in Iranian families from Lur ethnicity: Case series.

Autor:	Edizadeh, Masoud, Chegeninejad, Negar, Akbari, Soheila, Salehirad, Maryam, Pakmanesh, Rezvan, Ahmadipour, Shokoufeh, Hayatigolkhatmi, Kourosh, Khodadadi, Hamidreza
Předmět:	FAMILIAL spastic paraplegia IRANIANS ETHNICITY PARAPLEGIA GENES
Zdroj:	Clinical Case Reports; Jun2021, Vol. 9 Issue 6, Special section p1-7, 7p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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