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Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
(Wiley-liss, div John Wiley & Sons Inc., 2019-03)
Nuclear laminopathies are a group of human genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Among them, mutations in LMNAcause diverse phenotypes. De novo LMNA variants have been ...
International retrospective natural history study of LMNA-related congenital muscular dystrophy
(Oxford University Press, 2021)
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and
severity with an age of onset ranging from the neonatal period to adulthood. The natural history ...