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Prof Francesco Muntoni

Paediatric Neurologist
Professor Francesco Muntoni


Professor Muntoni is the Director of the Dubowitz Neuromuscular Centre, a leading clinical and research institution for children affected by neuromuscular disorders. He runs a specialised tertiary service for all neuromuscular disorders in children.  


  • Diagnosis of paediatric neuromuscular conditions 
  • Clinical management and therapy according to standards of care of paediatric neuromuscular conditions 
  • Involvement in the development and experimentation in clinical trials of novel therapies for childhood neuromuscular disorders 
  • Clinical and molecular aspects of neuromuscular disorders 
  • Genetic definition of rare neuromuscular diseases 
  • Translational research in neuromuscular diseases 


• Graduated from Italy 
• Completed training in Child Neurology and Psychiatry 
• MD from the University of Cagliari, Italy 
• FMedSci 
• Programme Director for the Developmental neuroscience research programme at ICH ( 2008-2017) 
• Theme lead for Novel Therapies in the ICH/GOSH Biomedical Research centre 
• Deputy Director for the Medical Research Centre neuromuscular Translational Research Centre at UCL (2008-current) 

• Genetic heterogeneity of neuromuscular disorders, with the identification of more than 30 disease genes responsible for rare neuromuscular and related disorders  
• Translational research aspects related to neuromuscular disorders and in particular Duchenne muscular dystrophy and spinal muscular atrophy 

News & Publications

Counsell, J.R., Asgarian, Z., Meng, J., Ferrer, V., Vink, C.A., Howe, S.J., Waddington, S.N., Thrasher, A.J., Muntoni, F., Morgan, J.E., Danos, O. 2017. Lentiviral vectors can be used for full-length dystrophin gene therapy. Sci Rep. 7(1):79.  

McDonald, C.M., Campbell, C., Torricelli, R.E., Finkel, R.S., Flanigan, K.M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A.N., Schara, U., Sejersen, T., Shieh, P.B., Sweeney, H.L., Topaloglu, H., Tulinius, M., Vilchez, J.J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R.J., Peltz, S.W., Mercuri, E; Clinical Evaluator Training Group; ACT DMD Study Group. 2017. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 

Zaharieva, I.T., Thor, M.G., Oates, E.C., van Karnebeek, C., Hendson, G., Blom, E., Witting, N., Rasmussen, M., Gabbett, M.T., Ravenscroft, G., Sframeli, M., Suetterlin, K., Sarkozy, A., D'Argenzio, L., Hartley, L., Matthews, E., Pitt, M., Vissing, J., Ballegaard, M., Krarup, C., Slørdahl, A., Halvorsen, H., Ye, X.C., Zhang, L.H., Løkken, N., Werlauff, U., Abdelsayed, M., Davis, M.R., Feng, L., Phadke, R., Sewry, C.A., Morgan, J.E., Laing, N.G., Vallance, H., Ruben, P., Hanna, M.G., Lewis, S., Kamsteeg, E.J., Männikkö, R., Muntoni, F. 2016. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 139(3) pp. 674-91. 

Marrosu, E., Ala, P., Muntoni, F., Zhou, H. 2017. Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. Mol Ther Nucleic Acids. 8 pp. 416-427.

Scoto, M., Rossor, A., Harms, M., Cirak, S., Calissano, M., Robb, S., Manzur, A., Martínez, A., Rodriguez Sanz, A., Mansour, S., Fallon, P., Hadjikoumi, I., Klein, A., Yang, M., De Visser, M., Overweg-Plandsoen Baas, F., Taylor, P., Benatar, M., Connolly, A., Al-Lozi, M., Nixon, J., de Goede, C., Foley, R., Mcwilliam, C., Pitt, M., Sewry, C., Phadke, R., Hafezparast, M., UK10K Consortium., Chong, K., Mercuri, E., Baloh, R., Reilly, M., Muntoni, F. 2015. Novel mutations expand the clinical spectrum of DYNC1H1-associated Spinal Muscular Atrophy. Neurology. 84(7) pp. 668-79.   

Colombo, I., Scoto, M., Manzur, A.Y., Robb, S.A., Maggi, L., Gowda, V., Cullup, T., Yau, M., Phadke, R., Sewry, C., Jungbluth, H., Muntoni, F. 2015. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 84(1) pp. 28-35.  

Zhou, H., Meng, J., Marrosu, E., Janghra, N., Morgan, J., Muntoni, F. 2015. Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response. Hum Mol Genet. 24(22) pp. 6265-77.  

Logan, C.V., Szabadkai, G., Sharpe, J., Parry, D.A., Torelli, S., Childs, A.M., Kriek, M.,  Phadke, R., Johnson, C.A., Roberts, N., Bonthron, D.T., Pysden, K.A., Whyte, T., Munteanu, I., Foley, A.R., Wheway, G., Szymanska, K., Natarajan, S., Abdelhamed, Z.A., Morgan, J.E., Roper, H., Santen, G.W.E., Niks, E.H., van der Pol, W.L., Lindhout, D., Raffaello. A., De Stefani, D., den Dunnen, J.T., Sun, Y., Ginjaar, I., Sewry, C.A., Hurles, M., Rizzuto, R., UK10K., Duchen, M.R., Muntoni, F., Sheridan, E. 2014. Loss of function mutations in MICU1 cause a novel disorder affecting brain and muscle and reveal primary alterations in mitochondrial Ca2+ signalling as a new disease mechanism. Nat Genet. 46(2) pp. 188-93.

Anthony, K., Arechavala-Gomeza, V., Ricotti, V., Torelli, S., Feng, L., Janghra, N., Tasca, G., Guglieri, M., Barresi, R., Armaroli, A., Ferlini, A., Bushby, K., Straub, V., Ricci, E., Sewry, C., Morgan, J., Muntoni, F. 2014. Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping. JAMA Neurol. 71(1) pp. 32-40. 

Ricotti, .V., Ridout, D.A., Pane, M., Main, M., Mayhew, A., Mercuri, E., Manzur, A.Y., Muntoni, F; on behalf of UK NorthStar Clinical Network. 2015. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. J Neurol Neurosurg Psychiatry. 

Voit, T., Topaloglu, H., Straub, V., Muntoni, F., Deconinck, N., Campion, G., De Kimpe, S.J., Eagle, M., Guglieri, M., Hood, S., Liefaard, L., Lourbakos, A., Morgan, A., Nakielny, J., Quarcoo, N., Ricotti, V., Rolfe, K., Servais, L., Wardell, C., Wilson, R., Wright, P., Kraus, J.E. 2014.  Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 1474-4422(14) pp. 70195-4.

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