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Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease

Juvenile DiseaseGenetic DisorderGeneticsGenetic EpidemiologyPediatricsPathologyDegenerative DiseaseClinical VariabilityDisease Gene IdentificationNeuropathologyMedicineNeuromuscular DisordersNeuromusculoskeletal Disorder