UCL Queen Square Institute of Neurology


Dubowitz Neuromuscular Centre

Great Ormond Street Hospital for Children NHS Foundation Trust

National Specialist Commissioning Team 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 Anna Sarkozy or Prof. Francesco Muntoni by emailing Gundari Gombosed at (Clinical HSS administrator): Gundari.Gombosed@gosh.nhs.uk and Tel. +44 (0)20 7405 9200 ext 4542

Muscle biopsy analysis (histological, histochemical, immunohistochemical and EM analysis). To discuss the pathological features contact: Prof Karl Frontzek (medical) or Darren Chambers (technical) Tel. 020 3448 4393

Muscle biopsy slides for review

DNA analysis (undertaken at Guy’s DNA Laboratory) contact Suzanne Lillis or Jo McCauley  Jo.McCauley@gstt.nhs.uk or Suzanne.Lillis@gstt.nhs.uk Tel: 020 7188 1714

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

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.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/dubowitz-neuromuscular-centre-dnc-information-parents-and-visitors/dubowitz-neuromuscular-centre/muscle-biopsy-service/

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. Francesco Catapano, Senior research Fellow

Dr Juliane Muller, Clinical Scientist

Tel: 020 3448 4235

All samples (except for DNA analysis) and accompanying HSS referral form should be sent to:

Dr. Francesco Catapano
Dubowitz Neuromuscular Centre
1st Floor Department of Neuropathology
Institute of Neurology
Queen Square
London WC1N 3BG

Tel: 020 3448 4235

DNA samples and accompanying NSS referral form should be sent to:
Suzanne Lillis
DNA Laboratory
Genetics Centre
5th Floor Guys Tower
Guys Hospital
St Thomas' Street
London SE1 9RT

Tel: 020 7188 2582/1714