Journal article
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
- Abstract:
-
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes. We report the clinico-pathological and electrophysiological features of 2 unrelated cases with heterozygous TPM3 mutation. Case 1 is a 19-year-old lady who presented with motor delay in infancy, respiratory failure in early teens requiring non-invasive ventilation despite being ambulant, ptosis, axial more than proximal weakness and scoliosis. Case 2 is a 7-year-ol...
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- Publication status:
- Published
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- Publisher copy:
- 10.1016/j.nmd.2010.07.274
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Authors
Bibliographic Details
- Journal:
- Neuromuscular disorders : NMD
- Volume:
- 20
- Issue:
- 12
- Pages:
- 796-800
- Publication date:
- 2010-12-01
- DOI:
- EISSN:
-
1873-2364
- ISSN:
-
0960-8966
- Source identifiers:
-
241175
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:241175
- UUID:
-
uuid:8be93d5e-2b90-4848-ad2d-6e4211514324
- Local pid:
- pubs:241175
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2010
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