Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next g...
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
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Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline rods on muscle biopsy. Exceptional adult cases with additional cores and an isolated distal weakness have been reported. The large NEB gene with 183 exons has been an obstacle for the genetic wo...
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Full title
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3798838
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3798838
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2013.31
