Journal
NEUROMUSCULAR DISORDERS
Volume 24, Issue 12, Pages 1103-1110Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2014.07.005
Keywords
Congenital myasthenic syndromes; Congenital myopathies; Neuromuscular junction; Neuromuscular transmission; Centronuclear myopathies; Fibre type disproportion; Plectinopathy; Tropomyosin; Acetylcholinesterase inhibitors; Acetylcholine receptor; RYR1; TPM2; TPM3; DNM2; BIN1; MTM1
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Funding
- Medical Research Council [MR/M006824/1] Funding Source: Medline
- Wellcome Trust [084655] Funding Source: Medline
- Medical Research Council [MR/M006824/1] Funding Source: researchfish
- MRC [MR/M006824/1] Funding Source: UKRI
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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 therapy. We also review other published cases of congenital myopathies with neuromuscular transmission abnormalities. This report expands the spectrum of congenital myopathies with secondary neuromuscular transmission defects. The recognition of these case is important since these conditions can benefit from treatment with drugs enhancing neuromuscular transmission. (C) 2014 Elsevier B.V. All rights reserved.
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