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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...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2009
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| Materias: | |
| 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 |