Associated Papers
A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients.
Tran VK et al.
Frontiers in Pediatrics, 2024
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L et al.
Neuromuscular Disorders : Nmd, 2017
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.
Guenther UP et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Guenther UP et al.
Human Mutation, 2007
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