Erin K O'Ferrall1, Michael Sinnreich. 1. Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute, Montreal, Quebec, Canada.
Abstract
PURPOSE OF REVIEW: The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing. RECENT FINDINGS: The diagnostic approach to patients with suspected genetically determined myopathies has been altered by recent advances in molecular diagnostic technologies and by the increased number of conditions for which the genetic alterations have been identified. Myopathological aspects can narrow down the differential diagnosis when the clinical phenotype is not informative enough and can help guide the molecular investigation. SUMMARY: Here, we review genetic and myopathological aspects of selected genetically determined myopathies.
PURPOSE OF REVIEW: The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing. RECENT FINDINGS: The diagnostic approach to patients with suspected genetically determined myopathies has been altered by recent advances in molecular diagnostic technologies and by the increased number of conditions for which the genetic alterations have been identified. Myopathological aspects can narrow down the differential diagnosis when the clinical phenotype is not informative enough and can help guide the molecular investigation. SUMMARY: Here, we review genetic and myopathological aspects of selected genetically determined myopathies.
Authors: Sophia Kapchinsky; Madhusudanarao Vuda; Kayla Miguez; Daren Elkrief; Angela R de Souza; Carolyn J Baglole; Sudhakar Aare; Norah J MacMillan; Jacinthe Baril; Paul Rozakis; Vita Sonjak; Charlotte Pion; Mylène Aubertin-Leheudre; Jose A Morais; R Thomas Jagoe; Jean Bourbeau; Tanja Taivassalo; Russell T Hepple Journal: J Physiol Date: 2018-05-19 Impact factor: 5.182
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