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

McNeill, Alisdair; Birchall, Daniel; Straub, Volker; Goldfarb, Lev; Reilich, Peter; Walter, Maggie C.; Schramm, Nicolai; Lochmueller, Hanns und Chinnery, Patrick F. (2009): Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation. In: European Neurology, No. 3: pp. 161-166

Abstract

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

• Item Type: Journal article
• Form of publication: Publisher's Version
• Faculties: Medicine
• Subjects: 600 Technology > 610 Medicine and health
• ISSN: 0014-3022
• Alliance/National Licence: This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.
• Language: English