Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing
نویسندگان
چکیده
منابع مشابه
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
Inherited peripheral neuropathies (IPNs) are a group of related diseases primarily affecting the peripheral motor and sensory neurons. They include the hereditary sensory neuropathies (HSN), hereditary motor neuropathies (HMN), and Charcot-Marie-Tooth disease (CMT). Using whole-exome sequencing (WES) to achieve a genetic diagnosis is particularly suited to IPNs, where over 80 genes are involved...
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Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the ...
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متن کاملIdentification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing
Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2015
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.126