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

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

    Grogan PM, Tanner SM, Ørstavik KH, Knudsen GP, Saperstein DS, Vogel H, Barohn RJ, Herbelin LL, McVey AL, Katz JS.

    Source

    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.

    PMID:
    15883335
    [PubMed - indexed for MEDLINE]

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