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Updated: Jul 5, 2025

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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童年发病的肌肉病与保存的行走,由复发的ADSSL1误解变体引起

Dipti Baskar1, Kiran Polavarapu1, Veeramani Preethish-Kumar1

  • 1From the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.

Neurology. Genetics
|January 17, 2024
PubMed
概括

这项研究详细介绍了6名印度患者的ADSSL1肌肉病变,一种罕见的遗传肌肉疾病. 研究结果揭示了不寻常的症状和常见的遗传变异,有助于亚洲人群未来的诊断.

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