A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness
About this item
Full title
Author / Creator
Publisher
United States: Cureus
Journal title
Language
English
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Publication information
Publisher
United States: Cureus
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Scope and Contents
Contents
We report the case of a 37-year-old female who presented with asymmetric, distal muscle weakness in the lower limbs, which had its onset in childhood. Muscle biopsy revealed pathological changes consistent with nemaline myopathy, and suspected biallelic variants in the
(
) gene, NM_001271208.1:c.24684G>C p.(Ser8228Ser) and c.23847+164A>G were...
Alternative Titles
Full title
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11910172
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11910172
Other Identifiers
ISSN
2168-8184
E-ISSN
2168-8184
DOI
10.7759/cureus.78945
