X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions

作者：Fidzianska A^*; Niebroj Dobosz I; Madej Pilarczyk A; Duong N T; Wehnert M

来源：Clinical Neuropathology, 2010, 29(2): 78-83.

• Emerin-Dreifuss muscular dystrophy
• IBM-like inclusions
• tubulofilamentous structures

The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is caused by intronic mutation IVS3-27del18 (c.266-27del18) in the emerin gene. The most surprising finding was the appearance of IBM-like inclusions in euchromatin, as well as aberrant nuclei. It may be speculated that altered expression of the emerin-lamin complex and modification of the nuclear matrix leads to formation of tubulofilamentous structures in the presented case.

• 出版日期2010-4