Muscle biopsy and cell cultures: Potential diagnostic tools in hereditary skeletal muscle channelopathies

Giovanni Meola, V. Sansone, G. Rotondo, E. Mancinelli

Research output: Contribution to journalArticlepeer-review


Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage-gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2+ channel give rise to hypokalemic periodic paralysis and malignant hyperthermia. Point mutations in the human skeletal chloride channel CIC-1 give rise to myotonia congenita. Point mutations in the inwardly rectifying K+ channel Kir2.1 give rise to a syndrome characterized by periodic paralysis, severe cardiac arrhythmias and skeletal alterations (Andersen's syndrome). Involvement of the same ion channel can thus give rise to different phenotypes. In addition, the same mutation can lead to different phenotypes or similar phenotypes can be caused by different mutations on the same or on different channel subtypes. Bearing in mind, the complexity of this field, the growing number of potential channelopathies (such as the myotonic dystrophies), and the time and cost of the genetic procedures, before a biomolecular approach is addressed, it is mandatory to apply strict diagnostic protocols to screen the patients. In this study we propose a protocol to be applied in the diagnosis of the hereditary muscle channelopathies and we demonstrate that muscle biopsy studies and muscle cell cultures may significantly contribute towards the correct diagnosis of the channel involved. DNA-based diagnosis is now a reality for many of the channelopathies. This has obvious genetic counselling, prognostic and therapeutic implications.

Original languageEnglish
Pages (from-to)17-28
Number of pages12
JournalEuropean journal of histochemistry : EJH
Issue number1
Publication statusPublished - 2003


  • Cell cultures
  • Hereditary channelopathies
  • Muscle biopsy
  • Muscle histochemistry
  • Muscle histopathology
  • Voltage-gated ion channels

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Cell Biology
  • Developmental Biology
  • Anatomy


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