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...
- Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathySarah Feldkirchner
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
Neuromuscul Disord 23:418-26. 2013..As all clinical subtypes and mutations in each exon of the FHL1 gene are associated with myofibrillar alterations and reducing bodies, we would like to suggest terming the whole group as FHL1-associated myopathies...
- Novel recessive myotilin mutation causes severe myofibrillar myopathyJoachim Schessl
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1 a, 80336, Munich, Germany
Neurogenetics 15:151-6. 2014..We suggest that the combined approach has a high potential as a new tool for the confirmation of unclassified variants which are found in whole-exome sequencing approaches. ..
- 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...
- 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)...
- 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...