Associated Papers
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Hayashi YK et al.
The Journal of Clinical Investigation, 2009
Thought ripples on muscle waves: recognition of rippling muscle disease.
Voermans NC et al.
Neuropediatrics, 2008
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