Journal article
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome
- Abstract:
-
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proxi...
Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Authors
Funding
+ Medical Research Council
More from this funder
Funding agency for:
Maxwell, S
Beeson, D
Grant:
MR/M006824
MR/M006824
+ Shanghai Municipal Commission of Health and Family Planning
More from this funder
Grant:
20154Y0004
201440019
Bibliographic Details
- Publisher:
- Elsevier Publisher's website
- Journal:
- Neuromuscular Disorders Journal website
- Volume:
- 27
- Issue:
- 6
- Pages:
- 557-564
- Publication date:
- 2017-03-10
- Acceptance date:
- 2017-03-07
- DOI:
- EISSN:
-
1873-2364
- ISSN:
-
0960-8966
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:691083
- UUID:
-
uuid:07f79169-aa6c-4924-95e3-375d17b25819
- Local pid:
- pubs:691083
- Source identifiers:
-
691083
- Deposit date:
- 2017-06-14
Terms of use
- Copyright holder:
- Elsevier
- Copyright date:
- 2017
- Notes:
- © 2017 Elsevier B.V. All rights reserved. This is the accepted manuscript version of the article. The final version is available online from Elsevier at: 10.1016/j.nmd.2017.03.004
Metrics
If you are the owner of this record, you can report an update to it here: Report update to this record