Affiliation: University of Munich
- A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)Peter Reilich
Friedrich Baur Institut, Department of Neurology, Ludwig Maximilians University, Munich, Germany
J Neurol 258:1437-44. 2011..We conclude, that MYOT mutations need to be considered as a rare cause of adult-onset, dominant LGMD without clear-cut MFM pathology...
- The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathyPeter Reilich
Friedrich Baur Institute, Department of Neurology, University of Munich, D 80336 Munich, Germany
Neuromuscul Disord 20:255-9. 2010..The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy...
- Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathyPeter Reilich
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilian University of Munich, Ziemssenstr 1, Munich, Germany
J Neurol 257:1108-18. 2010..Clinically, the patients suffered from weakness and atrophy predominantly of the lower limb muscles. In conclusion, we suggest considering FSHD in the differential diagnosis of adult-onset distal myopathies with rimmed vacuoles...
- Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophyJuliane S Muller
Department of Neurology, Friedrich Baur Institute, Lab for Molecular Myology, Ludwig Maximilians University, Marchioninistr 17, 81377 Munich, Germany
Neuromuscul Disord 16:432-6. 2006..This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations...
- The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
J Neurol 258:1987-97. 2011..Beta-adrenergic agents may be beneficial in improving triacylglycerol breakdown in patients with PNPLA2 mutations...
- Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophyMaggie C Walter
Friedrich Baur Institute, Gene Center and Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
Neuromuscul Disord 15:40-4. 2005..Thus, the mutation with this unique phenotypical expression represents the first example for a link between the neurogenic and myogenic phenotypes and extends the clinical variability of laminopathies...
- Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocolNicolai Schramm
Institute for Clinical Radiology, Ludwig Maximilians University, Ziemssenstr 1, 80336, Munich, Germany
Eur Radiol 18:2922-36. 2008..WB-MRI could be more useful than dedicated examinations for differential diagnosis, muscle biopsy planning and noninvasive follow-up examinations...
- Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trialMaggie C Walter
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
Orphanet J Rare Dis 8:26. 2013..DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B)...
- Muscle pathology in 57 patients with myotonic dystrophy type 2Benedikt G H Schoser
Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Ziemssenstr 1a, D 80336 Munich, Germany
Muscle Nerve 29:275-81. 2004..With a better understanding of the histopathological pattern in DM2, biopsies from patients with undiagnosed neuromuscular disorders can now be reevaluated...
- Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical studyMaggie C Walter
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, 80336 Munich, Germany
J Neurol 249:1717-22. 2002..Cr supplementation was well tolerated without clinically relevant side effects, but did not result in significant improvement of muscle strength or daily-life activities...