Nemaline myopathies: a current view
Nemaline myopathies: a current view
About this item
Full title
Author / Creator
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (
ACTA1
) and nebulin (
NEB
) are the commonest genetic cause. Most patients have congenital onset characterized by muscle weakness and hypot...
Alternative Titles
Full title
Nemaline myopathies: a current view
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6726674
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6726674
Other Identifiers
ISSN
0142-4319
E-ISSN
1573-2657
DOI
10.1007/s10974-019-09519-9
