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Neurology. 2005 May 10;64(9):1638-40.

Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.

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1
Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA.

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.

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