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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...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.nmd.2017.03.004

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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Funding agency for:
Maxwell, S
Grant:
MR/M006824
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Funding agency for:
Beeson, D
Grant:
MR/M006824
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
Source identifiers:
691083
Language:
English
Keywords:
Pubs id:
pubs:691083
UUID:
uuid:07f79169-aa6c-4924-95e3-375d17b25819
Local pid:
pubs:691083
Deposit date:
2017-06-14

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