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

McNeill A.a · Birchall D.b · Straub V.c · Goldfarb L.d · Reilich P.e · Walter M.C.e · Schramm N.f · Lochmüller H.c · Chinnery P.F.c, g
aClinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, bNeuroradiology, Regional Neurosciences Centre, Newcastle General Hospital, and cMRC Neuromuscular Centre, Institute of Human Genetics, International Centre For Life, Newcastle upon Tyne, UK; dClinical Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, Md., USA; eFriedrich Baur Institute, Department of Neurology, and fClinical Radiology, Ludwig Maximilians University of Munich, Munich, Germany; gMitochondrial Research Group, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Eur Neurol 2009;62:161–166 (DOI:10.1159/000227266)

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.

 

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