Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the DOK7 gene:
- all were homozygous carriers of a mutation in the DOK7 gene (c.1508dupC),
- this was accompanied by considerable variability in phenotypic expression,
- the authors distinguished between two groups, one paediatric (6 patients) and the other with onset of symptoms in adulthood (9),
- misdiagnosis was the rule in adults, especially as the decrement could be absent on EMG.
This form linked to the DOK7 gene appears to be by far the most common form of MSC in Finland.
