Associated Papers
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
Liu L et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Rzepnikowska W et al.
International Journal of Molecular Sciences, 2022
Clinical diversity caused by novel IGHMBP2 variants.
Yuan JH et al.
Journal of Human Genetics, 2017
Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.
Shi CH et al.
Neurology, 2015
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
Jędrzejowska M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
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