Associated Papers
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R et al.
American Journal of Human Genetics, 2022
36055214 (PubMed )
Supplement: mmc7.pdf
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Lohi H et al.
Neurology, 2007
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