Tibial muscular dystrophy
Definition:
References:
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[1]. H Haravuori, et al. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet. 1998 Mar;62(3):620-6. [Content Brief]
[2]. Peter Hackman, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002 Sep;71(3):492-500. [Content Brief]
[3]. Peter Y K Van den Bergh, et al. Tibial muscular dystrophy in a Belgian family. Ann Neurol. 2003 Aug;54(2):248-51. [Content Brief]