Article
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Neurogenetics - 1 Jan 2023
Nashi Saraswati, Polavarapu Kiran, Bardhan Mainak, Anjanappa Ram Murthy, Preethish-Kumar Veeramani, Vengalil Seena, Padmanabha Hansashree, Geetha Thenral S, Prathyusha P V, Ramprasad Vedam, Joshi Aditi, Chawla Tanushree, Unnikrishnan Gopikirshnan, Sharma Pooja, Huddar Akshata, Uppilli Bharathram, Thomas Abel, Baskar Dipti, Mathew Susi, Menon Deepak, Arunachal Gautham, Faruq Mohammed, Thangaraj Kumarasamy, Nalini Atchayaram
Abstract excerpt
Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant disability in the young population. There is a need for studies on large cohorts to describe the clinical, genotypic and natural history in our subcontinent. To describe and correlate the clinical, genetic profile and natural history of genetically confirmed dysferlinopathies. We analysed a retrospective cohort of patients with...
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