Skip Navigation

This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (22)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Bushby, K.
Right arrow Articles by Bindoff, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bushby, K.
Right arrow Articles by Bindoff, L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Brain, Vol 121, Issue 4 581-588, Copyright © 1998 by Oxford University Press

ARTICLES

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2

K Bushby, LV Anderson, C Pollitt, I Naom, F Muntoni and L Bindoff
Department of Human Genetics, University of Newcastle upon Tyne, UK.

We have identified seven patients (including two sib pairs) with a predominantly late onset limb-girdle muscular dystrophy in whom an absence of merosin was noted on immunoblotting. Merosin immunocytochemistry was normal, and no abnormalities were detected on immunostaining for the various proteins known to be involved in the limb-girdle muscular dystrophies (alpha, beta, gamma, delta sarcoglycan and calpain 3). Apart from one patient, where muscle problems began in childhood, reported age at onset of muscle weakness involving initially the proximal muscles of the lower limbs ranged from 17 to 40 years. The pattern of muscle involvement was similar from patient to patient, with hypertrophy of at least the calf muscles, absence of scapular winging and predominant involvement of hip flexors and adductors and hamstrings more than quadriceps. Serum creatine kinase in all patients was at least 10 times normal, and muscle biopsies showed non-specific dystrophic features. We believe that the patients described here may represent a genetically distinct subset within the limb-girdle muscular dystrophy group.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Am. J. Pathol.Home page
S. C. Brown, S. Torelli, M. Brockington, Y. Yuva, C. Jimenez, L. Feng, L. Anderson, I. Ugo, S. Kroger, K. Bushby, et al.
Abnormalities in {alpha}-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies
Am. J. Pathol., February 1, 2004; 164(2): 727 - 737.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Poppe, L. Cree, J. Bourke, M. Eagle, L.V.B. Anderson, D. Birchall, M. Brockington, M. Buddles, M. Busby, F. Muntoni, et al.
The phenotype of limb-girdle muscular dystrophy type 2I
Neurology, April 22, 2003; 60(8): 1246 - 1251.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Brockington, Y. Yuva, P. Prandini, S. C. Brown, S. Torelli, M. A. Benson, R. Herrmann, L. V.B. Anderson, R. Bashir, J.-M. Burgunder, et al.
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Hum. Mol. Genet., December 1, 2001; 10(25): 2851 - 2859.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
K. J Jones, G. Morgan, H. Johnston, V. Tobias, R. A Ouvrier, I. Wilkinson, and K. N North
The expanding phenotype of laminin {alpha}2 chain (merosin) abnormalities: case series and review
J. Med. Genet., October 1, 2001; 38(10): 649 - 657.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Fanin, E. Pegoraro, C. Matsuda-Asada, R.H. Brown Jr., and C. Angelini
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
Neurology, March 13, 2001; 56(5): 660 - 665.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
K. M. D. Bushby
Making sense of the limb-girdle muscular dystrophies
Brain, August 1, 1999; 122(8): 1403 - 1420.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
L. V. B. Anderson and K. Davison
Multiplex Western Blotting System for the Analysis of Muscular Dystrophy Proteins
Am. J. Pathol., April 1, 1999; 154(4): 1017 - 1022.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
L. V. B. Anderson, K. Davison, J. A. Moss, I. Richard, M. Fardeau, F. M. S. Tome, C. Hubner, A. Lasa, J. Colomer, and J. S. Beckmann
Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A
Am. J. Pathol., October 1, 1998; 153(4): 1169 - 1179.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.