Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

Thomas-Wilson, A., Dharmadhikari, A. V., Heymann, J. J., Jobanputra, V., DiMauro, S., Hirano, M., Naini, A. B., & Ganapathi, M. (2022). Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease. Molecular Case Studies, mcs.a006173. https://doi.org/10.1101/mcs.a006173
Authors:
Amanda Thomas-Wilson
Avinash V. Dharmadhikari
Jonas J. Heymann
Vaidehi Jobanputra
Salvatore DiMauro
Michio Hirano
Ali B. Naini
Mythily Ganapathi
Affiliated Authors:
Salvatore DiMauro
Michio Hirano
Ali B. Naini
Columbia Affiliation:
Subjects:
Glycogen Metabolism and Myoclonic Disorders (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Gene Therapy for Spinal Muscular Atrophy (OpenAlex Topic)
Glycogen Phosphorylase, Muscle Form (MeSH)
Glycogen Storage Disease Type V (MeSH)
Author Keywords:
acute rhabdomyolysis
exercise-induced muscle fatigue
exercise-induced myoglobinuria
recurrent myoglobinuria
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Publication Type:
Article
Unique ID:
10.1101/mcs.a006173
PMID:
35022222
DOI:
10.1101/mcs.a006173
Journal:
Cold Spring Harbor Molecular Case Studies
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created: