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
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P et al.
Genes, 2023
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C et al.
Jimd Reports, 2018
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M et al.
Brain : a Journal of Neurology, 2015
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