Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

The study of consanguineous families has provided novel insights into genetic causes of monogenic parkinsonism. Here, we present a family from the rural Khyber Pakhtunkhwa province, Pakistan, where three siblings were diagnosed with early-onset parkinsonism. Homozygosity mapping of two affected sibl...

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Detalles Bibliográficos
Autores principales: Bentley, Steven R., Khan, Suliman, Öchsner, Marco, Premarathne, Susitha, Aslam, Zain, Fowdar, Javed Y., Iqbal, Jamila, Naeem, Muhammad, Love, Christopher A., Wood, Stephen A., Mellick, George D., Sykes, Alex M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242651/
https://www.ncbi.nlm.nih.gov/pubmed/32499748
http://dx.doi.org/10.3389/fneur.2020.00331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242651/
https://www.ncbi.nlm.nih.gov/pubmed/32499748
http://dx.doi.org/10.3389/fneur.2020.00331

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