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...

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Vydáno v:	Frontiers in neurology Ročník 12; s. 799953
Hlavní autoři:	Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Switzerland Frontiers Media S.A 17.01.2022
Témata:	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 přístup:	Získat plný text
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