| Literature DB >> 15883335 |
P M Grogan1, S M Tanner, K H Ørstavik, G P S Knudsen, D S Saperstein, H Vogel, R J Barohn, L L Herbelin, A L McVey, J S Katz.
Abstract
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.Entities:
Mesh：
Substances：
Year: 2005 PMID： 15883335 DOI： 10.1212/01.WNL.0000160393.99621.D0
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910