Newcastle Laboratories

Limb Girdle Muscular Dystrophy (LGMD) Service

The Highly Specialised Service for Limb Girdle Muscular Dystrophy is based within The Newcastle upon Tyne Hospitals NHS Foundation Trust (NuTH) and is part of the John Walton Muscular Dystrophy Research Centre (JWMDRC). This is a partnership between Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust Hospitals. The Centre brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases.


Patients with a suspected diagnosis of LGMD or overlapping clinical condition can be seen at Newcastle or have muscle or DNA sent for analysis:

  • Protein analysis is performed within the Muscle Immunoanalysis Unit (MIU). Immunohistochemical and immunoblotting techniques are applied to skeletal muscle biopsy samples.
  • Molecular genetic analysis of a panel of genes to identify disease causing variants. Classification of variants of uncertain clinical significance is also undertaken.


Before sending any muscle samples to our service: a Pre-referral form and copies of any relevant clinical information (pathology report, clinic letters, MRI report etc.) must be sent for review. This helps with triage and guides what testing is required.


For all referrals and enquiries:

Clinical enquiries (Head of Service):

Dr Chiara Marini-Bettolo                            0191 241 8757

Molecular Genetic enquiries:

Dr Judith Hudson                                         0191 241 8667
Northern Molecular Genetics service,
Biomedicine East Wing,
International Centre for Life,
Central Parkway,
Newcastle upon Tyne,

Muscle biopsy analysis enquiries:

Matt Henderson / Yolande Parkhurst      0191 282 0841
Muscle Immunoanalysis Unit,                   0191 282 0842
Lower Ground Floor (Room 2.026),         0191 282 0846
Dental Hospital,
Richardson Road,
Newcastle upon Tyne,

Downloadable documents

Muscle pre-referral form