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Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation

Lookup NU author(s): Dr Daniel Birchall, Professor Volker StraubORCiD, Professor Hanns Lochmuller, Professor Patrick Chinnery


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Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected. Precisely defining specific categories is a challenge because of overlapping clinical phenotypes, making it difficult to decide which of the many known causative genes to screen in individual cases. In this study we define the distinguishing magnetic resonance imaging findings in myotilin myopathy by studying 8 genealogically unrelated cases due to the same point mutation in TTID. Proximally, the vastii, biceps femoris and semimembranosus were involved with sparing of gracilis and sartorius. Distally, soleus, gastrocnemius, tibialis anterior, extensor hallicus and extensor digitorum were involved. This pattern contrasts with other distal myopathies and provides further support for the role of imaging in the clinical investigation of muscle disease. Copyright (C) 2009 S. Karger AG, Basel

Publication metadata

Author(s): McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmuller H, Chinnery PF

Publication type: Article

Publication status: Published

Journal: European Neurology

Year: 2009

Volume: 62

Issue: 3

Pages: 161-166

Print publication date: 01/01/2009

ISSN (print): 0014-3022

ISSN (electronic):

Publisher: S. Karger AG


DOI: 10.1159/000227266


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Funder referenceFunder name
Wellcome Trust
01GM0601German Ministry of Education and Research