Linked Life Data

20181190

Source:http://linkedlifedata.com/resource/pubmed/id/20181190

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-2-25
pubmed:abstractText
Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:status
PubMed-not-MEDLINE
pubmed:issn
1757-1626
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7111
pubmed:dateRevised
2010-9-30
pubmed:year
2009
pubmed:articleTitle
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report.
pubmed:affiliation
Department of Biopathology, Genetics Unit, Tor Vergata University of Rome, via Montpellier, 1, Rome 00133, Italy. cristina.bulli@gmail.com
pubmed:publicationType
Journal Article