Dr Rahul Phadke

Dr Rahul PhadkeTel: 020 3448 4234
Fax: 020 3448 4486
Email: rahul.phadke@nhs.net

National Hospital for Neurology and Neurosurgery


Professional background

Dr Rahul Phadke leads the diagnostic paediatric pathology service for the Dubowitz Neuromuscular Centre (DNC) together with Professor Caroline Sewry. The DNC is a leading national and international diagnostic and research centre specialising in neuromuscular disorders affecting children and is designated by the NSCT as the national specialist diagnostic and advisory service for congenital muscular dystrophies and congenital myopathies, as well as being designated as a muscle centre by the muscular dystrophy campaign. Dr Phadke contributes to diagnostic surgical neuropathology reporting including brain biopsies and neurological post mortems (hospital and coronial). Dr Phadke also contributes to the peripheral nerve biopsy service led by Professor Brandner. A business case for establishing a skin biopsy service to diagnose small fibre neuropathies in the Division is currently being developed and we aim to roll out this service in early 2014. Dr Phadke is the educational lead for year 4 medical undergraduates rotating at Queen Square. He has lectured on paediatric and adult muscle pathology at various post graduate courses, contributed to E-Brain resource and is actively involved in providing muscle pathology training for national/international visitors to the DNC. Dr Phadke has a key research interest in paediatric neuromuscular disorders with a focus on congenital muscular dystrophies and congenital myopathies.

Research interests

  • Congenital myopathies
  • Muscular dystrophies


Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan;137(Pt 1):44-56.

Acute skeletal muscle wasting in critical illness. JAMA. 2013 Oct 16;310(15):1591-600.
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. JAMA Neurol. 2013 Dec;70(12):1556-61.

Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS One. 2013 Jul 22;8(7):e68958.

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscul Disord. 2013 Nov;23(11):883-91.

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6.

BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst. 2012 Jun;17(2):210-6.

GMC/GDC number: 6033094