Orphanet: Molecular diagnosis of Nemaline myopathy and Congenital fiber type disproportion myopathy ACTA1 gene: sequencing of the coding region

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Diagnosis of Nemaline myopathy and Congenital fiber-type disproportion myopathy (ACTA1 gene: sequencing of the coding region)

  • Neuromuscular Center
  • Department of Neurology
  • TAYS - Tampere University Hospital
  • Finn-Medi 2, Biokatu 8, 2nd floor
  • 33520 TAMPERE
  • Director of laboratory : Dr Johanna PALMIO
  • More information
  • Phone : 358 3 311 75328
  • Additional Phone : -
  • Fax : 358 3 364 0557
  • Website
Last update: January 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques

Additional information

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