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Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature.

Abstract:

Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres. The clinical features overlap with muscular dystrophies, myofibrillar myopathies, neurogenic conditions and congenital myasthenic syndromes. We describe a case of cap myopathy with myasthenic features due to a mutation in the TPM2 gene that responded to anticholinesterase t...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.nmd.2014.07.005

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Publisher:
Elsevier Publisher's website
Journal:
Neuromuscular disorders : NMD Journal website
Volume:
24
Issue:
12
Pages:
1103-1110
Publication date:
2014-12-01
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
Source identifiers:
481306

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