Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

► We report six novel mutations in the PYGM gene in six patients with McArdle disease.► In silico and conservation analyses were used to support mutation pathogenicity. ► We describe a family with pseudo-dominant transmission of McArdle disease. ► Increasing the database of pathogenic mutations helps confirm genetic tests. ► Recognizing the possibility of pseudo-dominance expedites appropriate genetic testing.