期刊
CURRENT OPINION IN NEUROLOGY
卷 21, 期 5, 页码 569-575出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0b013e32830f93c7
关键词
arthrogryposis; central nuclei; congenital myopathies; cores; distal myopathies; nemaline rods
资金
- National Commissioning Group of UK to the Dubowitz Centre for Congenital Muscular Dystrophies and Congenital Myopathies
- MDA (USA)
- Medical Research Council [G0601943] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
Purpose of review The 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 findings The 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. Summary The 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.
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