Free Ebook BookPediatric Neurology Part III Chapter 142. Emery-Dreifuss muscular dystrophy laminopathies and other nuclear envelopathies (Handbook of Clinical Neurology)

[Read.D6eS] Pediatric Neurology Part III Chapter 142. Emery-Dreifuss muscular dystrophy laminopathies and other nuclear envelopathies (Handbook of Clinical Neurology)

[Read.D6eS] Pediatric Neurology Part III Chapter 142. Emery-Dreifuss muscular dystrophy laminopathies and other nuclear envelopathies (Handbook of Clinical Neurology)

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The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. The most frequent and best known form is Emery-Dreifuss muscular dystrophy (EDMD), a skeletal myopathy characterized by progressive muscular weakness, joint contractures, and cardiac disease. EMD gene, encoding emerin, causes the X-linked form of EDMD, while LMNA gene encoding lamins A and C, is responsible for autosomal forms, usually with a dominant transmission. In the last years, the spectrum of conditions has been extraordinarily enlarged, from a congenital muscular dystrophy with severe paralytic or rapidly progressive picture due to de novo mutations in LMNA (L-CMD) to a limb-girdle muscular dystrophy with adult onset and much milder weakness (LGMD1B). LMNA has also been involved in a form of isolated cardiomyopathy associated with cardiac conduction disease and in an axonal form of hereditary neuropathy. Identification of this gene has been reported also in a number of non-neuromuscular disorders including lipodystrophy syndromes and a wide spectrum of premature aging syndromes ranging from mandibuloacral dysplasia to restrictive dermopathy. Mutations in other genes implicated in the processing or maturation of nuclear lamins have also been found. The extraordinary complexity of the molecular and pathophysiological mechanisms of these diseases is still not well known and the occurrence of modifying factors or genes is highly suspected. Identification of new genes and investigation of new therapeutic approaches are in progress. Pediatric Neurology Part III Vol 113. Handbook of ... Pediatric Neurology Part III Vol 113. Handbook of Clinical Neurology. ID: 2485188; May 2013; 732 Pages; Elsevier Science and Technology Handbook of Clinical Neurology Vol 113 Pgs 2-1987 ... Pediatric Neurology Part III. ... Chapter 142 - EmeryDreifuss muscular dystrophy laminopathies and other nuclear envelopathies; Pediatric Neurology Part III: Chapter 142. Emery-Dreifuss ... ... ebook Pediatric Neurology Part III: Chapter 142. Emery-Dreifuss muscular dystrophy laminopathies and other nuclear envelopathies: Boutique Kindle - Neurology : ... Chapter 142 - EmeryDreifuss muscular dystrophy ... Pediatric Neurology Part III. ... laminopathies and other nuclear envelopathies. ... The most frequent and best known form is Emery-Dreifuss muscular dystrophy ... Pediatric Neurology Part III 1st Edition Olivier Dulac ... ... Pediatric Neurology Part III ... A volume in the Handbook of Clinical Neurology series ... 142. Emery-Dreifuss muscular dystrophy ... Pediatric Neurology Part III Volume 113 - 1st Edition Purchase Pediatric Neurology Part III ... Handbook of Clinical Neurology. ... 142. Emery-Dreifuss muscular dystrophy ... Amazon.co.jp: Pediatric Neurology Part III: Chapter 142 ... ... Pediatric Neurology Part III: Chapter 142. EmeryDreifuss muscular dystrophy laminopathies and other nuclear envelopathies (Handbook of Clinical Neurology) ... Handbook of Clinical Neurology series ed. by Michael J ... Pediatric Neurology Part III ... 142 Emery-Dreifuss muscular dystrophy laminopathies and other nuclear envelopathies Pediatric Neurology Part III: Chapter 142. Emery-Dreifuss ... Pediatric Neurology Part III: Chapter 142. Emery-Dreifuss muscular dystrophy laminopathies and other nuclear envelopathies (Handbook of Clinical Neurology) ... Pediatric Neurology Part III: Chapter 142. EmeryDreifuss ... Pediatric Neurology Part III: Chapter 142. EmeryDreifuss muscular dystrophy laminopathies and other nuclear envelopathies (Handbook of Clinical Neurology) ...
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