Abstract

In 2004 Anderson and her colleagues reported an identical large 2502 bp deletion in the Nebulin gene, including exon 55 and parts of the adjacent introns, in five patients with nemaline myopathy from five Ashkenazi Jewish families [ [1] Anderson S.L. Ekstein J. Donnelly M.C. et al. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet. 2004; 115: 185-190 Crossref PubMed Scopus (62) Google Scholar ].

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