Cargando…
Expanded phenotype in a patient with spastic paraplegia 7
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the di...
Autores principales: | Gass, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay, Atwal, Paldeep S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628248/ https://www.ncbi.nlm.nih.gov/pubmed/29026558 http://dx.doi.org/10.1002/ccr3.1109 |
Ejemplares similares
-
Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)
por: Sunde, Kiri, et al.
Publicado: (2016) -
Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
por: DeMeo, Natasha N., et al.
Publicado: (2017) -
Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1
por: Kaiwar, Charu, et al.
Publicado: (2017) -
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer
por: Gass, Jennifer, et al.
Publicado: (2017) -
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
por: Yahikozawa, Hiroyuki, et al.
Publicado: (2015)