Tags

Type your tag names separated by a space and hit enter

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).
Brain Pathol. 2006 Oct; 16(4):266-72.BP

Abstract

Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene that code for the nuclear membrane protein lamin A/C. We investigated skeletal muscle fibers from several muscles for cytoplasmic degenerative changes in three patients with genetically confirmed Emery-Dreifuss muscular dystrophy. Methods included quantitative light and electron microscopy and PCR-based mutational analysis.

RESULTS

The degenerative pathway was characterized by the gradual replacement of individual myofibers by connective tissue. Early stages of degeneration typically involved only a segment of the cross-sectional area of a myofiber. Intermediate stages consisted of myofiber shrinkage due to "shedding" of peripheral cytoplasmic portions into the endomysial space, and fragmentation of the myofibers by interposed collagen fibrils. Empty basement membrane sheaths surrounded by abundant deposits of extracellular matrix marked the end stage of the degenerative process. The nuclear number-to-cytoplasmic area in myofibers of one patient increased with increasing cross-sectional area, suggesting that satellite cell fusion with myofibers may have compensated for myofiber shrinkage. The pattern of degeneration described herein differs from muscular dystrophies with plasma membrane defects (dystrophinopathy, dysferlinopathy) and explains the frequently found absence of highly elevated serum creatine kinase levels in autosomal dominant Emery-Dreifuss muscular dystrophy.

Authors+Show Affiliations

Institute of Brain Research, University of Tübingen, Tübingen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17107595

Citation

Mittelbronn, Michel, et al. "Myofiber Degeneration in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B)." Brain Pathology (Zurich, Switzerland), vol. 16, no. 4, 2006, pp. 266-72.
Mittelbronn M, Hanisch F, Gleichmann M, et al. Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). Brain Pathol. 2006;16(4):266-72.
Mittelbronn, M., Hanisch, F., Gleichmann, M., Stötter, M., Korinthenberg, R., Wehnert, M., Bonne, G., Rudnik-Schöneborn, S., & Bornemann, A. (2006). Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). Brain Pathology (Zurich, Switzerland), 16(4), 266-72.
Mittelbronn M, et al. Myofiber Degeneration in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B). Brain Pathol. 2006;16(4):266-72. PubMed PMID: 17107595.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). AU - Mittelbronn,Michel, AU - Hanisch,Frank, AU - Gleichmann,Marc, AU - Stötter,Mechthild, AU - Korinthenberg,Rudolf, AU - Wehnert,Manfred, AU - Bonne,Gisèle, AU - Rudnik-Schöneborn,Sabine, AU - Bornemann,Antje, PY - 2006/11/17/pubmed PY - 2007/1/27/medline PY - 2006/11/17/entrez SP - 266 EP - 72 JF - Brain pathology (Zurich, Switzerland) JO - Brain Pathol VL - 16 IS - 4 N2 - UNLABELLED: Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene that code for the nuclear membrane protein lamin A/C. We investigated skeletal muscle fibers from several muscles for cytoplasmic degenerative changes in three patients with genetically confirmed Emery-Dreifuss muscular dystrophy. Methods included quantitative light and electron microscopy and PCR-based mutational analysis. RESULTS: The degenerative pathway was characterized by the gradual replacement of individual myofibers by connective tissue. Early stages of degeneration typically involved only a segment of the cross-sectional area of a myofiber. Intermediate stages consisted of myofiber shrinkage due to "shedding" of peripheral cytoplasmic portions into the endomysial space, and fragmentation of the myofibers by interposed collagen fibrils. Empty basement membrane sheaths surrounded by abundant deposits of extracellular matrix marked the end stage of the degenerative process. The nuclear number-to-cytoplasmic area in myofibers of one patient increased with increasing cross-sectional area, suggesting that satellite cell fusion with myofibers may have compensated for myofiber shrinkage. The pattern of degeneration described herein differs from muscular dystrophies with plasma membrane defects (dystrophinopathy, dysferlinopathy) and explains the frequently found absence of highly elevated serum creatine kinase levels in autosomal dominant Emery-Dreifuss muscular dystrophy. SN - 1015-6305 UR - https://www.unboundmedicine.com/medline/citation/17107595/Myofiber_degeneration_in_autosomal_dominant_Emery_Dreifuss_muscular_dystrophy__AD_EDMD___LGMD1B__ L2 - https://doi.org/10.1111/j.1750-3639.2006.00028.x DB - PRIME DP - Unbound Medicine ER -