Associated Papers
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.
Wang Y et al.
Frontiers in Genetics, 2019
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M et al.
The Journal of Clinical Investigation, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M et al.
The Journal of Clinical Investigation, 2014
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