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Published in 2019 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000341
Abstract: Objective To investigate the spectrum of undiagnosed congenital myopathies (CMs) in adults presenting to our neuromuscular clinic and to identify the pitfalls responsible for diagnostic delays. Methods We conducted a retrospective review of patients diagnosed…
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Keywords:
congenital myopathies;
myopathies adult;
adult neuromuscular;
neuromuscular clinic ... See more keywords
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Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_565_21
Abstract: Thus, based on the reported cases in the literature and present case, it is likely possible to predict the onset of symptoms and the disease severity depending on the mutation in HEXA gene and its…
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Keywords:
accessibility care;
clinic accessibility;
neuromuscular clinic;
impact tele ... See more keywords