Showing results 13 to 15 of 15
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Title | Author(s) | Issue Date | |
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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Journal:Molecular Genetics & Genomic Medicine | 2020 | ||
2017 | |||
An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum Proceeding/Conference:Neuromuscular Disorders | 2013 |