The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence
- 1 March 2009
- journal article
- research article
- Published by Elsevier in Neuromuscular Disorders
- Vol. 19 (3) , 179-181
- https://doi.org/10.1016/j.nmd.2008.12.001
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
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- Nemaline Rods and Complex I Deficiency in Three Infants with Hypotonia, Motor Delay and Failure to ThriveNeuropediatrics, 2004
- Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin geneHuman Genetics, 2004
- Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyProceedings of the National Academy of Sciences, 1999