What question did this study set out to answer?

To characterize the genetic landscape, determine relative subtype prevalence, and investigate underlying inheritance mechanisms across a large cohort of patients with suspected limb-girdle muscular dystrophy.

December 1, 2018Annals of Clinical and Translational NeurologyOpen Access

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

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To characterize the genetic landscape, determine relative subtype prevalence, and investigate underlying inheritance mechanisms across a large cohort of patients with suspected limb-girdle muscular dystrophy.
Screened 4,656 individuals across the United States with clinically suspected limb-girdle muscular dystrophy between June 2015 and June 2017.
Conducted next-generation sequencing via a targeted panel evaluating 35 genes associated with limb-girdle muscular dystrophies and overlapping neuromuscular disorders.
Characterized gene-variant spectrums and prevalence patterns across autosomal-dominant and autosomal-recessive subtypes.
Identified a high prevalence of pathogenic variants spanning multiple limb-girdle muscular dystrophy genes simultaneously, suggesting potential synergistic heterozygosity or digenic and multigenic contributions to disease pathology.

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Implication

Cohort study uncovers multigenic variants and subtype prevalence in suspected limb-girdle muscular dystrophy patients, highlighting complex inheritance mechanisms.

Cite This Study

Nallamilli et al. (2018) studied this question.

synapsesocial.com/papers/6aa2429201abe00586efa5e4 https://doi.org/10.1002/acn3.649

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Implication

Cohort study uncovers multigenic variants and subtype prevalence in suspected limb-girdle muscular dystrophy patients, highlighting complex inheritance mechanisms.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Key Points

Discussion

Implication

Cite This Study

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Key Points

Discussion

Implication

Cite This Study

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