Tibial muscular dystrophy

Definition:

Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late onset. The clinical phenotype is relatively mild. Muscle weakness manifests in the patient's early 40s and remains confined to the tibial anterior muscles. TMD is caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

References:

[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]

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