A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission - Concepedia

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A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

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18

Citations

12

References

2019

Year

Stefan Nicolau, Teerin Liewluck, Xin‐Ming Shen, Duygu Selcen, Andrew G. Engel, Margherita Milone

Neuromuscular Disorders

Mitochondrial MyopathyPostsynaptic DefectsMendelian DisorderSkeletal MuscleGenetic DisorderMedicineGeneticsHomozygous MutationPathologyDegenerative DiseaseNeuromuscular TransmissionNeurologyNeuropathologyNeuromuscular PathologyNeuromuscular DisordersNeuromusculoskeletal Disorder

References

	Year	Citations

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