Neurological Disorders

Josef Finsterer

Publications

• Short Communication
  Intra- and inter-familial phenotypic heterogeneity of the m.7510T>C variant
  Author(s): Josef Finsterer and Sinda Zarrouk-MahjoubJosef Finsterer and Sinda Zarrouk-Mahjoub
  
  In a recent article Kytövuori et al. reported a Finnish family with phenotypically variable multiorgan disease manifesting in the brain, ears, and endocrine organs, due to the variant m.7510T>C in the MT-TS1 (tRNA(Ser)) gene with high heteroplasmy. We have the following comments and concerns. .. Read More»
  DOI: 10.4172/2329-6895.1000381

  Abstract PDF