Associated Papers
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Volkening K et al.
Molecular and Cellular Biochemistry, 2021
Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
Patni N et al.
American Journal of Medical Genetics. Part A, 2017
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