Article
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
Journal of neurology - 1 Apr 2010
Pollazzon Marzia, Suominen Tiina, Penttilä Sini, Malandrini Alessandro, Carluccio Maria Alessandra, Mondelli Mauro, Marozza Annabella, Federico Antonio, Renieri Alessandra, Hackman Peter, Dotti Maria Teresa, Udd Bjarne
Abstract excerpt
Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficulty in walking and right foot drop. Muscle imaging showed selective fatty degenerative change in...
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