Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European Journal of Human Genetics

Volumn 9, Issue 12, 2001, Pages 903-909

  Sun, Chen ^a   Tranebjærg, Lisbeth ^a   Torbergsen, Torberg ^a   Holmgren, Gösta ^b   Van Ghelue, Marijke ^a,c  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF TROMSØ   (Norway)

Author keywords

CLCN1; Genetic heterogeneity; Myotonia; Myotonia congenita; Population frequencies; Prevalence

Indexed keywords

ADENINE; CHLORIDE CHANNEL; CYTOSINE; THYMINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; DNA POLYMORPHISM; FAMILY STUDY; FEMALE; FINLAND; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE DISEASE; MUSCLE EXCITATION; MUSCLE FIBER MEMBRANE; MUSCLE HYPERTROPHY; MUSCLE STIFFNESS; NORWAY; PEDIGREE ANALYSIS; PREVALENCE; PRIORITY JOURNAL; SCANDINAVIA; SKELETAL MUSCLE; SWEDEN; THOMSEN DISEASE;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0035711427     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200736     Document Type: Article

References (18)

1. Membrane changes in cells from myotonia patients
2. Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)
3. - conductance cause hyperexcitability in recessive generalised myotonia (Becker)
4. The skeletal muscle chloride channel in dominant and recessive human myotonia
5. Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia
6. Novel muscle chloride channel mutations and their effects on heterozygous carriers
7. ClC-1 chloride channel mutations in myotonia congenita: Variable penetrance of mutations shifting the voltage dependence
8. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia
9. Founder mutations and the high prevalence of myotonia congenita in a Northern Finland
10. Population frequencies of inherited neuromuscular diseases - A world survey
11. Myotonia congenita in northern Finland: An epidemiological and genetic study
12. Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family
13. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita
14. Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect
15. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita
16. Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
17. Proximal myotonic myopathy: Clinical and molecular investigation of a Norwegian family with PROMM
18. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance