Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations NEUROLOGY Grogan, P. M., Tanner, S. M., Orstavik, K. H., Knudsen, G. P., Saperstein, D. S., Vogel, H., Barohn, R. J., Herbelin, L. L., McVey, A. L., Katz, J. S. 2005; 64 (9): 1638-1640


The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.

View details for Web of Science ID 000228995600032

View details for PubMedID 15883335