Clinically, myotonia can range from delayed eye opening to a disabling symptom causing impaired mobility, functional difficulty and sometimes pain, and is a symptom that almost always indicates a genetic diagnosis, although it can occur in acquired conditions, including metabolic and drug-induced causes.
E. Matthews, M. Specterman, K. Mul· Journal of Neurology· 0 citations
Only 14 individuals have been thus far described with GlyT1 encephalopathy due to biallelic variants in the SLC6A9 gene and the phenotypic picture is incomplete. Early mortality has been high, with only two known to survive into infancy. We report a 27-year-old individual who, to our knowledge, is the eldest person des...
M. Mencias, Meneka Kanagaratnam, E. Matthews· Journal of Human Genetics· 0 citations
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