Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, an...
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
About this item
Full title
Author / Creator
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Nemaline myopathy (NM) is a heterogeneous genetic neuromuscular disorder characterized by rod bodies in muscle fibers resulting in multiple complications due to muscle weakness. NM patients and their families could benefit from genetic analysis for early diagnosis, carrier and prenatal testing; however, clinical classification of variants is subjec...
Alternative Titles
Full title
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10620380
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10620380
Other Identifiers
ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01378-w
