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Updated: Dec 6, 2025
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B:
Qiao Li1, Cheng Tan, Jiajun Chen
1Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Rationale:
Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and long-term prognosis.
Patient Concerns:
An 18-year-old woman presented with progressive weakness of limbs, persistent elevated serum creatine kinase, myogenic damages in electromyography, and dysferlin protein deficiency in muscle biopsy. Further next-generation sequencing (NGS) revealed a compound heterozygous variant in dysferlin gene (DYSF), including a novel frameshift variant of c.4010delT.
Diagnosis:
The patient was diagnosed with LGMD2B clinically and genetically.
Interventions:
Oral levocarnitine and coenzyme Q10 were prescribed to the patient.
Outcomes:
After symptomatic treatments for 1 week, the patient's symptoms were not improved.
Lessons:
NGS might be a helpful tool for the diagnosis of LGMD. A novel variant of c.4010delT in DYSF was identified in this case, which broadens the genetic spectrum of LGMD2B.
