Abstract
Here we describe a patient with limb girdle muscular dystrophy 1A (LGMD1A) due to a novel myotilin gene (MYOT) mutation with late onset, rapid progression, loss of ambulation and respiratory failure. The onset of weakness in proximal muscles and muscle MRI findings are clearly different from the pattern identified in myofibrillar myopathies (MFM) related to MYOT mutations. Moreover, there was very limited evidence of myofibrillar pathology in several muscle biopsies obtained during the disease course. We conclude, that MYOT mutations need to be considered as a rare cause of adult-onset, dominant LGMD without clear-cut MFM pathology.
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Acknowledgments
We thank M. Schmuck, Munich, for expert technical assistance, C. Müller-Reible, W. Kress, Würzburg, and G. Dekomien, Bochum, for cooperation within the MD-NET. PR, PS, SK, MCW, BS and HL are members of the German network on muscular dystrophies (MD-NET, 01GM0887) funded by the German Federal Ministry of Education and Research (BMBF, Bonn, Germany). MD-NET is a partner of TREAT-NMD (EC, 6th FP, proposal #036825). Parts of the study were supported by grants for the DFG FOR 1228 (BS, MCW).
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415_2011_5953_MOESM1_ESM.tif
Sequence analysis of PCR products amplified from genomic DNA. The G to A transition at nucleotide position 17 in exon 2 (c.763C > T) converts arginine to histidine at codon 6 (p. R6H). Site of mutation is indicated by arrows.(TIFF 108 kb)
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Reilich, P., Krause, S., Schramm, N. et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 258, 1437–1444 (2011). https://doi.org/10.1007/s00415-011-5953-9
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DOI: https://doi.org/10.1007/s00415-011-5953-9