Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel <it>BIN1 </it>stop mutation

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel <it>BIN1 </it>stop mutation

<p>Abstract</p> <p>Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is du...

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Bibliographic Details
Main Authors: Kurul Semra, Çakmakçı Handan, Ortaç Ragıp, Yiş Uluç, Böhm Johann, Dirik Eray, Laporte Jocelyn
Format: Article
Language:English
Published: BMC 2010-12-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/5/1/35

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http://www.ojrd.com/content/5/1/35

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