The first Italian family with tibial muscular dystrophy caused by a novel titin mutation-Reference-Cited by-同舟云学术

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Published:2009-11-13 Issue:4 Volume:257 Page:575-579
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-009-5372-3.pdf

Reference12 articles.

1. Udd B, Kaarianen H, Somer H (1991) Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve 14(11):1050–1058

2. Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkila H, Ingo S, Kalimo H, Kaariainen H, Laulumaa V et al (1993) Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 50(6):604–608

3. de Seze J, Udd B, Haravuori H, Sablonniere B, Maurage CA, Hurtevent JF, Boutry N, Stojkovic T, Schraen S, Petit H, Vermersch P (1998) The first European family with tibial muscular dystrophy outside the Finnish population. Neurology 51(6):1746–1748

4. Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B (2003) Tibial muscular dystrophy in a Belgian family. Ann Neurol 54(2):248–251

5. Hackman P, Marchand S, Sarparanta J, Vihola A, Penisson-Besnier I, Eymard B, Pardal-Fernandez JM, el Hammouda H, Richard I, Illa I, Udd B (2008) Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord 18(12):922–928

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