Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2021 Mar;63(3):282-284.
doi: 10.1002/mus.27160. Epub 2021 Jan 14.

Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty

Elicia A Estrella  1 , Peter B Kang  2   3
Affiliations
Editorial

Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty

Elicia A Estrella et al. Muscle Nerve. 2021 Mar.
No abstract available

PubMed Disclaimer

Comment on

References

REFERENCES

    1. Herman I, Lopez MA, Marafi D, et al. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021;63:304-310. https://doi.org/10.1002/mus.27112.
    1. Ankala A, da Silva C, Gualandi F, et al. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol. 2015;77:206-214.
    1. Nallamilli BRR, Chakravorty S, Kesari A, et al. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Ann Clin Transl Neurol. 2018;5:1574-1587.
    1. Haskell GT, Adams MC, Fan Z, et al. Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. Neurol Genet. 2018;4:e212.
    1. Ghaoui R, Cooper ST, Lek M, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol. 2015;72:1424-1432.

LinkOut - more resources