Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in E...
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
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Publisher
England: by American Association of Neuropathologists, Inc
Journal title
Language
English
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Publisher
England: by American Association of Neuropathologists, Inc
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Scope and Contents
Contents
KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and genetic studies. The incidence is estimated to be at least 1 in 45 226 livebirths (at...
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Full title
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
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Record Identifier
TN_cdi_proquest_miscellaneous_2267007600
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2267007600
Other Identifiers
ISSN
0022-3069
E-ISSN
1554-6578
DOI
10.1093/jnen/nlz056
