Key result
The Human Gene Mutation Database (HGMD) is a comprehensive repository of published germline mutations associated with human inherited disease, containing over 203,000 entries as of March 2017.
Population
A 3-year-old female child with paramyotonia congenita
Design
Case report and review of literature
Follow-up
Six months
Authors
Loading...
Mexiletine may alleviate symptoms in paramyotonia congenita with atypical EMG; hypothesis-generating case report, larger studies needed before broader adoption.
Mexiletine alleviated symptoms in a child with paramyotonia congenita who exhibited previously undocumented giant-amplitude and irregular wave myotonic discharges on EMG.
Yi et al. (2024) conducted a review in Human inherited disease. The Human Gene Mutation Database (HGMD) is a comprehensive repository of published germline mutations associated with human inherited disease, containing over 203,000 entries as of March 2017.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: