التفاصيل البيبلوغرافية
| العنوان: |
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation |
| المؤلفون: |
Overeem, S.1,2 s.overeem@neuro.umcn.nl, Schelhaas, H.J.2, Blijham, P.J.1,2, Grootscholten, M.I.3, ter Laak, H.J.2,4, Timmermans, J.5, van den Wijngaard, A.6, Zwarts, M.J.1 |
| المصدر: |
Neuromuscular Disorders. Jun2007, Vol. 17 Issue 6, p490-493. 4p. |
| مصطلحات موضوعية: |
*MUSCLE diseases, *HYPERTROPHIC cardiomyopathy, *MYOSIN, *GENETIC mutation |
| مستخلص: |
Abstract: Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32–36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16). [Copyright &y& Elsevier] |
| قاعدة البيانات: |
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