Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center-Reference-Cited by-同舟云学术

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Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center

Published:2024-04 Issue:2 Volume:14 Page:
ISSN:2163-0402
Container-title:Neurology Clinical Practice
language:en
Short-container-title:Neur Clin Pract

Author:

Ebert Suzahn E.¹^ORCID,Meiling James B.¹^ORCID,Caress James B.¹^ORCID,Gandhi Mehta Rachana K.¹^ORCID,Baute Penry Vanessa¹^ORCID,Puwanant Araya¹^ORCID,Cartwright Michael S.¹^ORCID

Affiliation:

1. Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/CPJ.0000000000200268

Reference16 articles.

1. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

2. Population frequencies of inherited neuromuscular diseases—A world survey

3. Cost of illness for neuromuscular diseases in the United States

4. The utility of genetic testing in neuromuscular disease: A consensus statement from the AANEM on the clinical utility of genetic testing in diagnosis of neuromuscular disease

5. Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

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