The genetics of congenital myopathies

Handbook of Clinical Neurology
Hernan D GonorazkyJames J Dowling

Abstract

Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or around the time of birth with hypotonia, muscle weakness, and (often) respiratory distress. Historically, this group of disorders has been subclassified based on muscle histopathologic characteristics. There has been an explosion of gene discovery, and there are now at least 32 different genetic causes of disease. With this increased understanding of the genetic basis of disease has come the knowledge that the mutations in congenital myopathy genes can present with a wide variety of clinical phenotypes and can result in a broad spectrum of histopathologic findings on muscle biopsy. In addition, mutations in several genes can share the same histopathologic features. The identification of new genes and interpretation of different pathomechanisms at a molecular level have helped us to understand the clinical and histopathologic similarities that this group of disorders share. In this review, we highlight the genetic understanding for each subtype, its pathogenesis, and the future key issues in congenital myopathies.

Citations

May 21, 2019·Human Molecular Genetics·Stephanie BrennanRobert T Dirksen
Mar 11, 2019·La Radiologia medica·Francesco AlessandrinoAnna Pichiecchio
Aug 29, 2019·Acta Neuropathologica Communications·Xavière LornageJohann Böhm
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Nov 15, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Mo ZhaoJames J Dowling
May 20, 2020·Neurology. Genetics·Fatema Al AmraniJames J Dowling
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Jan 12, 2019·F1000Research·Gianina RavenscroftNigel G Laing
Aug 16, 2019·Disease Models & Mechanisms·Jonathan R VolpattiJames J Dowling
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Nov 20, 2021·Frontiers in Neurology·Kun HuangHuan Yang
Jul 17, 2021·Current Opinion in Neurology·Nika MaaniJames J Dowling

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