Genetic testing for spinal muscular atrophy.

نویسندگان

  • Jo M Wilmshurst
  • Felicity Leisang
  • Howard Hendersen
چکیده

We would be particularly interested to hear more about the clinical phenotype and epidemiology of this cohort of patients. The authors have, for example, included phenotypic patients with facial weakness in their grouping. This is of significance because the international guidelines (ENMC, 1998) regard these as exclusion criteria for SMA. In our cohort of patients, facial weakness in the SMA molecularly genetically confirmed group is not a feature. Our 4 patients who presented with facial weakness, and were found to be negative for the common SMN (survival motor neuron) gene mutation, were subsequently confirmed to have other pathologies (congenital myopathy or congenital dystrophy).

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عنوان ژورنال:
  • South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

دوره 96 12  شماره 

صفحات  -

تاریخ انتشار 2006