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

• Published in: Cases journal Vol. 2; no. 1; p. 7111
• Main Authors: Bulli, Cristina, Battistella, Pier Antonio, Bordignon, Marta, Bramanti, Placido, Novelli, Giuseppe, Sangiuolo, Federica
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 29.04.2009

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...