Additional file 6: Figure S7. of MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

  • C Fiorillo (Contributor)
  • G Astrea (Contributor)
  • M Savarese (Contributor)
  • D Cassandrini (Contributor)
  • G. Brisca (Contributor)
  • F. Trucco (Contributor)
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  • R. Trovato (Contributor)
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  • A. D’Amico (Contributor)
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  • M Fanin (Contributor)
  • L Bello (Contributor)
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  • S Messina (Contributor)
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  • S Gibertini (Contributor)
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  • Eugenio Maria Mercuri (Contributor)
  • E Bertini (Contributor)
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  • V. Nigro (Contributor)
  • C. Minetti (Contributor)
  • F. M. Santorelli (Contributor)
  • C Bruno (Contributor)

Dataset

Description

Results of mRNA analysis on patients 7 and 18. PCR reactions, performed using cDNA synthesized from muscle total RNA of patients 7 (c.5655 + 1G > A) and 18 (c.5655G > A), result into an additional short fragment, because of an abnormal splicing. The sequences of the normal size fragment showed the normal exon37-exon38 boundary; electropherograms of the short fragment show the skipping of exon38 and the exon37-exon39 junction. Red circles indicate the genomic position of the mutated nucleotides. (JPG 514 kb)
Dati resi disponibili2016
Editorefigshare

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