Literature DB >> 7951211

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

S Tsujino1, S Shanske, Y Goto, I Nonaka, S DiMauro.   

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Year:  1994        PMID： 7951211     DOI： 10.1093/hmg/3.6.1005

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  6 in total

Review 1.  Molecular genetics of McArdle's disease.

Authors:  G Nogales-Gadea; J Arenas; A L Andreu
Journal:  Curr Neurol Neurosci Rep       Date:  2007-01       Impact factor: 5.081

Review 2.  Genetic deficiencies of the glycogen phosphorylase system.

Authors:  J Hendrickx; P J Willems
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

Review 3.  Muscle glycogenoses: an overview.

Authors:  S Di Mauro
Journal:  Acta Myol       Date:  2007-07

4.  Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.

Authors:  S Iyengar; H Kalinsky; S Weiss; M Korostishevsky; M Sadeh; Y Zhao; K K Kidd; B Bonne-Tamir
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

Review 5.  McArdle disease: molecular genetic update.

Authors:  A L Andreu; G Nogales-Gadea; D Cassandrini; J Arenas; C Bruno
Journal:  Acta Myol       Date:  2007-07

6.  The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.

Authors:  Hyung Jun Park; Ha Young Shin; Yu Na Cho; Seung Min Kim; Young-Chul Choi
Journal:  J Korean Med Sci       Date:  2014-07-11       Impact factor: 2.153
  6 in total

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