European Journal of Human Genetics - Clinical utility gene card for: Central core disease

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 12 October 2011; doi: 10.1038/ejhg.2011.179
Clinical utility gene card for: Central core diseaseSuzanne Lillis1, Stephen Abbs1, Clemens R Mueller2, Francesco Muntoni3 and Heinz Jungbluth4

1GSTS Pathology, Guy's Hospital, Great Maze Pond, London, UK
2Institut fuer Humangenetik, Biozentrum Am Hubland Wuerzburg, Germany
3Dubowitz Neuromuscular Centre, UCL Institute of Child Health, and Great Ormond Street Hospital for Children, Division of Neuroscience, London, UK
4Department of Paediatric Neurology, Evelina Children's Hospital, London, UK

Correspondence: Dr H Jungbluth, Department of Paediatric Neurology, Evelina Children's Hospital, Lambeth Palace Road, London SE1 7EH, UK. Tel: +44 20 71883998; Fax: +44 20 71880851; E-mail: Heinz.Jungbluth@gstt.nhs.uk

Top of page1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Central core disease (CCD) and related phenotypes.

1.2 OMIM# of the disease
#117000.

1.3 Name of the analysed genes or DNA/chromosome segments
Skeletal muscle ryanodine receptor (RYR1) gene.

1.4 OMIM# of the gene(s)
*180901.

full-text:
European Journal of Human Genetics - Clinical utility gene card for: Central core disease