Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001–2008
EM Clement, L Feng, R Mein, CA Sewry… - Neuromuscular …, 2012 - Elsevier
The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral
centre for congenital muscular dystrophy (CMD). This retrospective review reports the
diagnostic outcome of 214 UK patients referred to the centre for assessment of 'possible
CMD'between 2001 and 2008 with a view to commenting on the variety of disorders seen
and the relative frequency of CMD subtypes in this patient population. A genetic diagnosis
was reached in 53 of 116 patients fulfilling a strict criteria for the diagnosis of CMD. Within …
centre for congenital muscular dystrophy (CMD). This retrospective review reports the
diagnostic outcome of 214 UK patients referred to the centre for assessment of 'possible
CMD'between 2001 and 2008 with a view to commenting on the variety of disorders seen
and the relative frequency of CMD subtypes in this patient population. A genetic diagnosis
was reached in 53 of 116 patients fulfilling a strict criteria for the diagnosis of CMD. Within …