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16:00 - 17:00 13 February 2013

A Mutation in TGFB3 Associated with a Syndrome of Low Muscle Mass, Growth Retardation, Distal Arthrogryposis with No Cardiovascular Involvement


Leolin Price Lecture Theatre, Institute of Child Health (link Map)
30 Guilford St | London | WC1N 1EH |

Open to: Academic | Student

Speaker information: Hugh Y. Rienhoff Jr., Research Scientist, Children’s Hospital Oakland Research Inst. San Francisco, California. Host: Institute of Child Health (Seminar series of the MRC for Neuromuscular Diseases: Dubowitz Neuromuscular Centre, ad hoc lecture)

A new syndrome including athrogryposis, cleft uvula and hypomyoplasia is associated with a mutation in TGFB3. The mutation is hypomorphic confirming the need for TGFB3 in normal palatogenesis and suggesting disruption of TGFB3 signalling interferes with normal myogenesis.


Jane Miller
020 7905 2111 | jane.miller@ucl.ac.uk