Mutation spectrum of primary lipid storage myopathies
Mutation spectrum of primary lipid storage myopathies
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Publisher
India: Wolters Kluwer India Pvt. Ltd
Journal title
Language
English
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Publisher
India: Wolters Kluwer India Pvt. Ltd
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Contents
Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe the clinical features and genetic spectrum of LSM seen in a quaternary referral center in India...
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Full title
Mutation spectrum of primary lipid storage myopathies
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TN_cdi_doaj_primary_oai_doaj_org_article_5d749b61d0244865808cf0773e31245c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5d749b61d0244865808cf0773e31245c
Other Identifiers
ISSN
0972-2327
E-ISSN
1998-3549
DOI
10.4103/aian.aian_333_21
