Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

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 uniq...

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Main Authors: Bulli, Cristina, Battistella, Pier Antonio, Bordignon, Marta, Bramanti, Placido, Novelli, Giuseppe, Sangiuolo, Federica
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2009
Ábhair:
Research article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2827104/
https://ncbi.nlm.nih.gov/pubmed/20181190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1757-1626-2-7111
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