SPG20 mutation in three siblings with familial hereditary spastic paraplegia

Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by...

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Detalles Bibliográficos
Autores principales: Dardour, Leila, Roelens, Filip, Race, Valerie, Souche, Erika, Holvoet, Maureen, Devriendt, Koen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495031/
https://www.ncbi.nlm.nih.gov/pubmed/28679690
http://dx.doi.org/10.1101/mcs.a001537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495031/
https://www.ncbi.nlm.nih.gov/pubmed/28679690
http://dx.doi.org/10.1101/mcs.a001537

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