Arati Khanna-Gupta
Associate Research ScientistCards
About
Research
Publications
2024
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common
Karthikeyan P, Kumar S, Khanna‐Gupta A, Raman L. In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. Molecular Genetics & Genomic Medicine 2024, 12: e2123. PMID: 39548682, PMCID: PMC11568062, DOI: 10.1002/mgg3.2123.Peer-Reviewed Original ResearchConceptsLimb-girdle muscular dystrophyDuchene muscular dystrophyMuscular dystrophyDuchenne muscular dystrophy patientsPercentage of patientsAutosomal recessive diseaseMuscular dystrophy patientsCharcot Marie ToothNegative patientsCongenital myopathiesDeletion/duplication analysisNext generation sequencing analysisDiagnosed patientsDystrophy patientsRecessive diseaseSevere formPatientsDystrophyLimb girdlesGenetic variantsPrevention strategiesVariant casesPoint mutationsSGCB geneFounder effect