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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Detalles Bibliográficos
Autores principales: Bulli, Cristina, Battistella, Pier Antonio, Bordignon, Marta, Bramanti, Placido, Novelli, Giuseppe, Sangiuolo, Federica
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827104/
https://www.ncbi.nlm.nih.gov/pubmed/20181190
http://dx.doi.org/10.1186/1757-1626-2-7111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827104/
https://www.ncbi.nlm.nih.gov/pubmed/20181190
http://dx.doi.org/10.1186/1757-1626-2-7111

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