European Journal of Human Genetics - Clinical utility gene card for: Multi-minicore disease

Clinical Utility Gene CardEuropean Journal of Human Genetics advance online publication 19 October 2011; doi: 10.1038/ejhg.2011.180

Clinical utility gene card for: Multi-minicore diseaseSuzanne Lillis1, Steve Abbs1, Ana Ferreiro2, Francesco Muntoni3 and Heinz Jungbluth4

1GSTS Pathology, London, UK
2U787 INSERM/ UPMC, GH Pitié-Salpêtrière, Paris, France
3Dubowitz Neuromuscular Centre, London, UK
4Department of Paediatric Neurology, Evelina Children's Hospital, London, UK
Correspondence: Dr H Jungbluth, Department of Paediatric Neurology, Evelina Children's Hospital, London, SE1 7EH, UK. Tel: +44 20 71883998; Fax: +44 20 7188; E-mail: Heinz.Jungbluth@gstt.nhs.uk

Top of page1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Multi-minicore disease (MmD); multi-minicore myopathy; minicore myopathy; multicore myopathy with external ophthalmoplegia; moderate minicore myopathy with hand involvement; antenatal onset minicore myopathy with arthrogryposis.

The large number of synonyms reflects the variability of clinical and histopathological features, as well as genetic heterogeneity. MmD, introduced following the dedicated ENMC workshops on the condition,1, 2 is the most common synonym, and is used consistently throughout this paper.

1.2 OMIM# of the disease
#255320, #117000 and #607552.
1.3 Name of the analysed genes or DNA/chromosome segments
Skeletal muscle ryanodine receptor (RYR1) gene/19q13.1; selenoprotein N (SEPN1) gene/1p35.

full-text:
European Journal of Human Genetics - Clinical utility gene card for: Multi-minicore disease