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