Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Link
http://link.springer.com/content/pdf/10.1007/s13730-019-00392-6.pdf
Reference17 articles.
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2. D’Amico A, Bertini E. Metabolic neuropathies and myopathies. Handb Clin Neurol. 2013;113:1437–55.
3. Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick R. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins. 1987;2:77–187.
4. Izumi R, Suzuki N, Kato K, Warita H, Tateyama M, Nakashima I, Itoyama Y. A case of McArdle disease: efficacy of vitamin B6 on fatigability and impaired glycogenolysis. Intern Med. 2010;49:1623–5.
5. DiMauro S, Lamperti C. Muscle glycogenoses. Muscle Nerve. 2001;24:984–99.
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