منابع مشابه
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1
In myotonic dystrophy type 1, several studies have suggested causal relationships between CTG repeat length and the severity of symptoms, such as weakness or myotonia. We aimed to explore these relationships in a large population of 144 DM1 patients. All patients underwent clinical and functional assessments using a standardized test for grip strength and myotonia assessment. Myotonia was asses...
متن کاملMyotonia fluctuans.
Autosomal-dominantly inherited nondystrophic myotonic disorders are an interesting group of muscle diseases that provide considerable opportunity for future molecular genetic studies to identify the genes responsible for specific membrane functions. A family with such a myotonic disorder is described with features that are distinctly different from myotonia congenita and paramyotonia congenita....
متن کاملOcular Myotonia
Today, we have heard about several rare diseases and I am about to add another to the pile. This seems to me entirely appropriate to this occasion. Malcolm Campbell, as has been said, was a keen student of natural history. He took a special delight in the recognition of an unusual condition. I should like to add my tribute to his memorial. Myotonia is a sustained contraction of muscle fibres ca...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2021
ISSN: 1757-790X
DOI: 10.1136/bcr-2020-240779