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
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.
Jones HF et al.
Neuromuscular Disorders : Nmd, 2019
Analyses of the presence of mutations in Dystrophin protein to predict their relative influences in the onset of Duchenne Muscular Dystrophy.
Bhattacharya S et al.
Cellular Signalling, 2014
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