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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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Publisher copy:
10.1016/j.nmd.2014.07.005

Authors


Rodríguez Cruz, PM More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Jayawant, S More by this author
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Publisher:
Elsevier Ltd
Journal:
Neuromuscular Disorders
Volume:
24
Issue:
12
Pages:
1103-1110
Publication date:
2014-12-01
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:79ca2cac-1e66-4d2b-b505-de54221c0e90
Source identifiers:
503115
Local pid:
pubs:503115

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