## Abstract Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical cliniclal presentation of myophosβphorylase deficiency. Beside previously described m
Phenotype modulators in myophosphorylase deficiency
β Scribed by Andrea Martinuzzi; Elena Sartori; Marina Fanin; Annachiara Nascimbeni; Lucia Valente; Corrado Angelini; Gabriele Siciliano; Tiziana Mongini; Paola Tonin; Giuliano Tomelleri; Antonio Toscano; Luciano Merlini; Laurence A. Bindoff; Stefano Bertelli
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 151 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0364-5134
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