Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing-Reference-Cited by-同舟云学术

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Published:2020-02-09 Issue:3 Volume:40 Page:302-307
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Woods Jeremy D.¹^ORCID,Khanlou Negar²,Lee Hane²³,Signer Rebecca³,Shieh Perry⁴,Chen Johnathan⁵,Herzog Matthew³,Palmer Christina³⁶,Martinez‐Agosto Julian¹,Nelson Stanley F.¹³,

Affiliation:

1. Department of PediatricsUniversity of California Los Angeles Los Angeles California USA

2. Department of PathologyUniversity of California Los Angeles Los Angeles California USA

3. Department of Human GeneticsUniversity of California Los Angeles Los Angeles California USA

4. Department of NeurologyUniversity of California Los Angeles Los Angeles California USA

5. Department of RadiologyUniversity of California Los Angeles Los Angeles California USA

6. Department of Psychiatry and Behavioral SciencesUniversity of California Los Angeles Los Angeles California USA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12641

Reference6 articles.

1. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

2. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan

3. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

4. Clinical, histological, and genetic characterization of PYROXD1-related myopathy

5. Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation

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2. Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders;Human Molecular Genetics;2023-03-15

3. Autosomal Recessive Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023

4. Crosstalk between ROCK1 and PYROXD1 regulates CAFs activation and promotes laryngeal squamous cell carcinoma metastasis;Discover Oncology;2022-11-05

5. Clinical and genetic characterization of PYROXD1 ‐related myopathy patients from Turkey;American Journal of Medical Genetics Part A;2021-03-10