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

Abstract

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.

• Authors: A Fidzianska, I Niebrój-Dobosz, A Madej-Pilarczyk, N T Duong, M Wehnert
• Journal: Clinical neuropathology (Clin Neuropathol) 2010 Mar-Apr Vol. 29 Issue 2 Pg. 78-83 ISSN: 0722-5091 [Print] Germany
• PMID: 20175956 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Lamin Type A
• Membrane Proteins
• Nuclear Proteins
• emerin

Topics

• Blotting, Western
• Child
• Child, Preschool
• DNA Mutational Analysis
• Humans
• Inclusion Bodies (ultrastructure)
• Lamin Type A (deficiency)
• Male
• Membrane Proteins (genetics)
• Microscopy, Electron, Transmission
• Muscle, Skeletal (metabolism, ultrastructure)
• Muscular Dystrophy, Emery-Dreifuss (genetics, metabolism, pathology)
• Mutation
• Nuclear Proteins (genetics)
• Polymerase Chain Reaction