Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Ítems similars

• Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
  per: Park, Mi-Hyun, et al.
  Publicat: (2014)
• Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease
  per: Pierce, Sarah B., et al.
  Publicat: (2016)
• Autosomal Dominant Spinocerebellar Ataxia
  per: Shakkottai, Vikram G., et al.
  Publicat: (2013)
• Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
  per: Yang, Shi-Lin, et al.
  Publicat: (2020)
• Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature
  per: Shukla, Anju, et al.
  Publicat: (2016)