Linked Life Data

7735894

Source:http://linkedlifedata.com/resource/pubmed/id/7735894

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1995-6-7
pubmed:abstractText
The cause of several familial muscular diseases have recently been linked to mutations within skeletal muscle sodium and chloride channel genes. Thomsen's and Becker's diseases are autosomal dominant and recessive, respectively, and are caused by at least seven different mutations in the CLCN1 (ClC-1) skeletal muscle chloride channel gene on chromosome 7q35. Hyperkalaemic periodic paralysis, paramyotonia congenita and a small heterogeneous group of related 'pure' myotonias are autosomal dominant disorders and are due to at least 16 different mutations in the SCN4A (SkM1) adult skeletal muscle sodium channel gene on chromosome 17q23-25. There is generally little correlation between the position of a mutation in the channel and the phenotype. Indeed, identical sodium channel mutations in unrelated subjects and sometimes in different members of the same family can have different clinical expressions. It seems, however, that mutations of the inactivation gate (ID3-4 loop) of the sodium channel tend to produce paramyotonia or pure, sometimes severe, myotonia and respond most favourably to the same medications (tocainide and mexiletine). The structure and polarity of substituted amino acids at a mutation site, especially in highly evolutionally conserved regions of the gene, are undoubtedly important to the expression of a channel disease and may partly explain phenotypic variability. In addition, genetic polymorphisms elsewhere, either in the gene or other channel-related loci, and the net effect of other types of muscle ion channels on the electrical potential of the plasma membrane probably contribute to disease expression.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0006-8950
pubmed:author
pubmed:issnType
Print
pubmed:volume
118 ( Pt 2)
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
547-63
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
The skeletal muscle sodium and chloride channel diseases.
pubmed:affiliation
Department of Clinical Neurological Sciences, University Hospital, London, Ontario, Canada.
pubmed:publicationType
Journal Article, Review