Article
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
Neurology - 10 May 2005
Grogan P M, Tanner S M, Ørstavik K H, Knudsen G P S, Saperstein D S, Vogel H, Barohn R J, Herbelin L L, McVey A L, Katz J S
Abstract excerpt
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...
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