Mast Syndrome Outside the Amish Community: SPG21 in Europe

Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describ...

Celý popis

Podrobná bibliografia

Vydané v:	Frontiers in neurology Ročník 12; s. 799953
Hlavní autori:	Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Switzerland Frontiers Media S.A 17.01.2022
Predmet:	hereditary spastic paraplegia HSP MAST syndrome Neurology rare diseases SPG21 rare diseases MAST syndrome HSP hereditary spastic paraplegia SPG21
ISSN:	1664-2295, 1664-2295
On-line prístup:	Získať plný text
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!