Novel muscle chloride channel mutations and their effects on heterozygous carriers

American Journal of Human Genetics

Volumn 58, Issue 2, 1996, Pages 317-324

  Mailänder, Volker ^a   Heine, Roland ^a   Deymeer, Feza ^b   Lehmann Horn, Frank ^a  

^a UNIVERSITY OF ULM   (Germany)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; DNA;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CHLORIDE CONDUCTANCE; CLINICAL ARTICLE; CONSANGUINITY; DNA SEQUENCE; ELECTROMYOGRAM; FEMALE; GENE; GENE DOSAGE; GENE MUTATION; HETEROZYGOTE; HUMAN; INHERITANCE; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; THOMSEN DISEASE;

AMINO ACID SEQUENCE; CHLORIDE CHANNELS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MYOTONIA CONGENITA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ALIGNMENT; SEQUENCE DELETION;

EID: 0030032336     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Becker PE (1957) Zur Frage der Heterogenie der erblichen Myotonien. Nervenarzt 28:455-460
2. Bryant SH (1969) Cable properties of external intercostal muscle fibres from myotonic and non-myotonic goats. J Physiol 204:539-550
3. Disteche CM (1995) Escape from X inactivation in human and mouse. Trends Genet 11:17-22
4. Fahlke Ch, Rudel R, Mitrovic N, Zhou M, George AL (1995) An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels. Neuron 15:120
5. George AL, Crackover MA, Abdalla JA, Hudson AJ, Ebers GC (1993) Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 3:305-310
6. George AL, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM (1994) Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 3:2071-2072