Dubowitz Neuromuscular Centre

Great Ormond Street Hospital for Children NHS Foundation Trust

National Specialised Commissioning Team Referral Centre for Congenital Muscular Dystrophies and Congenital Myopathies

Head of Service: Prof. Francesco Muntoni

Four levels of service are offered for paediatric cases:

· Clinical assessment: If you wish to discuss the case before referral contact: Dr. Stephanie Robb. Tel: 020 7405 9200; bleep: 2175 or Prof. Francesco Muntoni.

· Muscle biopsy analysis (histological, histochemical, immunohistochemical and EM analysis). To discuss the pathological features contact: Prof. Caroline Sewry or Dr. Rahul Phadke, Tel. 0845 155 5000 ext. 84393, Direct: 020 3448 4393

· Muscle biopsy slides for review

· DNA analysis (undertaken at Guy’s DNA Laboratory) contact Dr. Stephen Abbs, Tel: 020 7188 1714

For any general queries related to the service please contact the team at:

dncmusclepathology@gosh.nhs.uk

Further information about the service can be found on our website and various documents including referral form can also be downloaded from the site at: https://www.ucl.ac.uk/child-health/research/developmental-neurosciences-programme/molecular-neurosciences/dubowitz-neuromuscular-centre 

The results and advice we are able to give you will be generated using a combined approach incorporating clinical information, muscle biopsy analysis and genetic analysis. The combination of these approaches is needed to offer an informed opinion because of the heterogeneity within this group of disorders.

If you require clarification on any points before sending samples please contact:

Dr. Lucy Feng

Tel: 020 3448 4235

Fax: 020 3448 4486