Key result
Next-generation sequencing identifies ~77% of solved limb-girdle muscular weakness cases versus single-gene testing.
Why the study?
Hereditary myopathies with limb-girdle muscular weakness are genetically heterogeneous and molecular diagnosis remains challenging.
Cohort (n=121)
Yes
Absolute Event Rate: 77.3% vs 22.7%
In patients with limb-girdle muscular weakness, earlier use of next-generation sequencing is recommended to avoid long diagnostic delays, especially in those with younger onset, highly elevated CK, and myopathic EMG.
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May support earlier NGS to shorten LGW diagnostic delays; extends predictive parameters for molecular diagnosis in observational cohorts.
Krenn et al. (2022) conducted a cohort in Limb-girdle muscular weakness (LGW) (n=121). Next-generation sequencing (NGS) vs. Single-gene testing was evaluated on Proportion of solved cases diagnosed. Next-generation sequencing diagnosed a higher proportion of solved cases of limb-girdle muscular weakness than single-gene testing (77.3% vs. 22.7%).
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