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Congenital myopathies

Sewry, CA; Jimenez-Mallebrera, C; Muntoni, F; (2008) Congenital myopathies. CURR OPIN NEUROL , 21 (5) 569 - 575. 10.1097/WCO.0b013e32830f93c7.

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Abstract

Purpose of reviewThe present review aims to discuss the pathological and clinical heterogeneity of congenital myopathies, and the overlap between the different variants highlighted by recent studies.Recent findingsThe spectrum of pathological changes associated with known gene defects has widened, and new genes responsible for rare structural defects have been identified. The complexity of the classification of these conditions is highlighted by the realization that defects in the same gene can result in diverse phenotypes, including disorders traditionally classified as congenital myopathies with structural abnormalities, adult-onset disorders, conditions characterized by distal weakness and wasting, or distal arthrogryposis. There is a wider appreciation of the complexities of inheritance and of the value of noninvasive assessment, such as muscle MRI. New animal models provide a better understanding of pathogenesis and are highlighting therapeutic possibilities.SummaryThe overlap of clinical and pathological features in the congenital myopathies has led to the recognition that diverse disorders are often associated with the same causative gene, and is challenging traditional classifications. Identification of further causative genes and development of new models will further the understanding of pathogenesis and development of therapies.

Type: Article
Title: Congenital myopathies
DOI: 10.1097/WCO.0b013e32830f93c7
Keywords: arthrogryposis, central nuclei, congenital myopathies, cores, distal myopathies, nemaline rods, CENTRAL CORE DISEASE, FIBER-TYPE DISPROPORTION, LINKED MYOTUBULAR MYOPATHY, DOMINANT NEMALINE MYOPATHY, MUSCLE RYANODINE RECEPTOR, SPINAL MUSCULAR-ATROPHY, TROPOMYOSIN GENE TPM2, SELENOPROTEIN-N GENE, CENTRONUCLEAR MYOPATHY, MISSENSE MUTATIONS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/126490
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