Affiliation: University of Munich
- Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophyJoachim Schessl
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Germany
Muscle Nerve 45:740-2. 2012..Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy...
- Reducing body myopathy and other FHL1-related muscular disordersJoachim Schessl
Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Germany
Semin Pediatr Neurol 18:257-63. 2011..This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation...
- Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque componentsSarah Feldkirchner
Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
Proteomics 12:3598-609. 2012..The FHL1 mutation-specific pattern was validated for four patients with respect to desmin, SQSTM, and FHL1 by immunohistochemistry...
- 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...