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RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

✍ Scribed by Alessandra Pangrazio; Barbara Cassani; Matteo M Guerrini; Julie C Crockett; Veronica Marrella; Luca Zammataro; Dario Strina; Ansgar Schulz; Claire Schlack; Uwe Kornak; David J Mellis; Angela Duthie; Miep H Helfrich; Anne Durandy; Despina Moshous; Ashok Vellodi; Robert Chiesa; Paul Veys; Nadia Lo Iacono; Paolo Vezzoni; Alain Fischer; Anna Villa; Cristina Sobacchi


Book ID
112118166
Publisher
American Society for Bone and Mineral Research
Year
2012
Tongue
English
Weight
575 KB
Volume
27
Category
Article
ISSN
0884-0431

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Identification of five new mutations and
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Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in