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Molecular diagnosis of congenital fiber-type disproportion myopathy (SEPN1, ACTA1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 16/06/2011
  • U.O. Neurologia IV - Malattie Neuromuscolari e Neuroimmunologia
  • Diagnostica Genetico Molecolare e Neuroimmunologica delle Malattie Neuromuscolari
  • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
  • Via Celoria 11
  • 20133 MILANO MI
  • Director of laboratory : Dr Pia BERNASCONI
  • More information
  • Phone : 39 02 23942255
  • Additional Phone : -
  • Fax : 39 02 70633874
  • Website
  • Contact
Last update: June 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.