Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Donkervoort, Sandra and Keyword is Muscle Weakness [Clear All Filters]
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
