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Links & Articles

General Information

  • US National Library of Medicine – Myotonia Congenita
  • National Organization for Rare Diseases
  • Wikipedia – Myotonia Congenita
  • Muscular Dystrophy Association – Myotonia Congenita
  • Healthline – Myotonia Congenita
  • Orphanet – Thomsen and Becker Disease
  • Brainfacts – Myotonia Congenita
  • OMIM® – Online Mendelian Inheritance in Man® – MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
  • OMIM® – Online Mendelian Inheritance in Man® – MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
  • American Association of Neuromuscular & Electrodiagnostic Medicine
  • Mount Sinai – Myotonia Congenita
  • Pediatric Orthopaedic Society of North America
  • KEGG Disease Database
  • Very Well Health
  • MalaCards Human Disease Database
  • Penn State Multimedia Encyclopedia
  • MDA – Ask the Experts – Myotonia Congenita (only available through Internet Archive)

Other Articles

  • Coping with Anesthesia
  • Anesthesia Protocol for Myotonia Congenita
  • Caution Regarding Use of Quinolone Antibiotics with Myotonia
  • Understanding Myotonia Congenita – the Patient’s Perspective
  • Jan’s Recommended Diet for Myotonia Congenita
  • Chart Comparing Periodic Paralyses
  • Despite Muscle Disease, ‘Toy Tiger’ Was an Awesome Fighting Machine
  • A Muscle Disease Concealed by a Muscular Physique

Scientific Articles

Unfortunately, a number of scientific articles are behind a paywall. I’ve linked only to the articles that are freely available. I don’t have a background in medicine, so I can’t evaluate the quality or usefulness of these. I’m just posting in case anyone is interested.

  • Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
  • Phenotypic Variability in Myotonia Congenita
  • Successful Treatment of a Patient with Statin-Induced Myopathy and Myotonic Dystrophy Type 2 with PCSK9 Inhibitor, Alirocumab (Praluent TM )
  • Mexiletine for Symptoms and Signs of Myotonia in NonDystrophic Myotonia: A Randomized Controlled Trial
  • A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient
  • The Non-dystrophic Myotonias: Molecular Pathogenesis, Diagnosis and Treatment
  • Muscle channelopathies: the nondystrophic myotonias and periodic paralyses
  • Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
  • Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis
  • Myotonia congenita – A cause of muscle weakness and stiffness
  • Myotonia congenita in a Labrador Retriever with truncated CLCN1
  • Muscle hypertrophy in myotonia congenita (scroll down to page 6 to find article)
  • Pubmed articles on myotonia congenita
  • Additional articles available through sci-hub
  • The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study
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