caa a22 4500 445809973 CHVBK 20180317145208.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s00415-011-5953-9 doi (NATIONALLICENCE)springer-10.1007/s00415-011-5953-9 A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A) [Elektronische Daten] [Peter Reilich, Sabine Krause, Nicolai Schramm, Ursula Klutzny, Stefanie Bulst, Barbara Zehetmayer, Peter Schneiderat, Maggie Walter, Benedikt Schoser, Hanns Lochmüller] 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. Springer-Verlag, 2011 LGMD1A nationallicence Myotilin nationallicence MYOT nationallicence Myofibrillar myopathy nationallicence Phenotype nationallicence Reilich Peter Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Krause Sabine Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Schramm Nicolai Department of Clinical Radiology, Ludwig-Maximilians-University, Munich, Germany aut Klutzny Ursula Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Bulst Stefanie Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Zehetmayer Barbara Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Schneiderat Peter Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Walter Maggie Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Schoser Benedikt Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut Lochmüller Hanns Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK aut Journal of Neurology Springer-Verlag 258/8(2011-08-01), 1437-1444 0340-5354 258:8<1437 2011 258 415 https://doi.org/10.1007/s00415-011-5953-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-5953-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Reilich Peter Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Krause Sabine Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Schramm Nicolai Department of Clinical Radiology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Klutzny Ursula Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Bulst Stefanie Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Zehetmayer Barbara Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Schneiderat Peter Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Walter Maggie Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Schoser Benedikt Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany aut NATIONALLICENCE 700 1- Lochmüller Hanns Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/8(2011-08-01), 1437-1444 0340-5354 258:8<1437 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer