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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

Location

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.


Contact

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