Researchers on CNM


Patient registry and studies        Recent Therapies


 Beggs Lab Photo  

The Beggs Labaratory is commited to the study of congentital myopathie

Anna Buj Bello   Ana Buj Bello
 BioPhoto_ashx  Martin Childers, is a professor in the Department of Rehabilitation Medicine and Investigator at the Institute for Stem Cell & Regenerative Medicine, University of Washington. He is working on gene replacement therapy for MTM in cooperation with Genethon and another project on Duchenne Muscle Distrophy
Jim Dowling Jim Dowling works at the departement of paediatrics and molecular genetics at the University of Toronto

Katharina Ketel

 Volker Haucke is head of the Department for Molecular Pharmacology and Cell Biology at the Leibnitz Institut für Molekulare Phamakologie in Berlin. His research fosus on protein transport in cells. A malfuncioning protein transport which could be responsible for myotubular myopathy

Katharina Ketel is one of his Ph.D. students



Jocelyn Laporte  leads the workgroup “physiopathology of neuromuscular diseases” at the IGBMC in Strasbourg

Johann Böhm and Belinda Cowling both work in his team.

 jungbluth-heinz Heinz Jungbluth is a Child Neurologist with a special interest in neuromuscular disorders. He leads the Neuromuscular Service at the Evelina Children’s Hospital, London. He is an expert on RYR1
 Lawlor  Mike Lawlor works at the CMD Tissue Repository
 Dr. David Mack low res  David Mack is working on the understanding different aspects of stem cell development
 Francesco Muntoni  Francesco Muntoni
 Müller-Felber Wolfgang Müller-Felber is Prof. Dr., Medical Director of the motor skills and Metabolic-house, co-director, paediatrician, neurologist and psychiatrist, Neuropediatric, Munich, Germany
 Renno  Markus Renno is a pediatrician, collaborating with Dr. Smiths on CNM
 Barbara Smith, Ph D, PT Physical Therpay Barbara K. Smith works at the department of physical therapy and pediatrics at the University of Florida
 ttthhh  Laurent Servais and Charlotte Lilien are working on the international Natural History Study for MTM…
 fff  Nicol Voermans  works at the neuromuscular centre of the Radboud university medical center, Nijmegen, the Netherlands. One of her main research interests are congenital myopathies with a focus on RYR1
 !cid__d5ac689c-3e41-4d9d-89cb-356ceb77c03e_  Arlene Wüstner   is studying Medicine at the University of Halle/GermanyHumanmedizin and is working on receiving her PhD. Her Topic is the “Research on the progress and care  of children with Myotubular Myopathy”