Rudolf A. Kley

TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.

TL;DR: The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases and provide diagnostic algorithms that might guide us through the differential diagnosis in hereditary myopathies.

TL;DR: A co-segregating, heterozygous nonsense mutation (8130G-->A; W2710X) in the filamin c gene (FLNC) on chromosome 7q32.1 is identified, which is the first found in FLNC and is localized in the dimerization domain of Filamin c.

TL;DR: Comparing muscle imaging findings in different subtypes of myofibrillar myopathies in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders is compared.

TL;DR: The German filaminopathy cohort, the largest group of patients studied so far, shares phenotypic features with LGMD and presents with characteristic histopathological findings of MFM.