About this Research Topic
An analysis of the recent literature published on inherited neuromuscular disorders tends to propose the next generation genetic approaches as the ‘panacea’ for the diagnostic difficulties encountered by myologists in their routine. In parallel, we assist to a stigmatization of the muscle biopsy procedure that is invasive, and only allow the analyses of a small fragment of a specific muscle, that cannot be considered specific of a global pathologic process. These new tendencies contrast with the reality where a multidisciplinary and complementary approach, including all different examinations, is often needed to give a definite diagnosis to patients. In many settings, the clinician externalizes the exome sequencing analysis, and then receives a list of variants. In both situations, there is a need to go back to the clinics and muscle tissue to pick the right gene. With our Research Topic, we aim to evaluate the actual yield of muscle biopsy analyses in different groups of inherited myopathies. The goal is to reaffirm the role of the muscle biopsy in specific conditions and to build interest in investing human and material resources to promoting the field of myopathology. We estimate that this topic will help greatly in determining when a muscle biopsy is still needed in the diagnostic follow up on inherited myopathies.
For this Topic we would like to attract experts in the field of inherited myopathies to contribute with their reporting of myopathologic features of already described conditions, or to describe the myopathologic aspects of novel myopathies. These contributions should help in creating a clear vision of the scenarios where histopathologic analyses can help in the diagnosis of inherited myopathies, and what analyses are needed according to the distinct pathologies. Furthermore, we would welcome papers assessing the role of muscle biopsy in the translational research of inherited myopathies, such as the identification of specific myopathologic outcome measures for novel therapeutic approaches like gene therapy or genome editing approaches. For this Topic we welcome submissions of:
• Original Research
• Brief Research Reports
• Reviews of specific myopathology topics
Topic Editor Edoardo Malfatti has an ongoing contract with Spark for providing services in muscle biopsy analyses. the other Topic Editors declare no competing interests with regards to the Research Topic subject.
Keywords: Muscle biopsy, myopathies, histopathology, electron microscopy
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.