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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

Authors


Lashley, D More by this author
Jungbluth, H More by this author
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Journal:
Neuromuscular disorders : NMD
Volume:
20
Issue:
12
Pages:
796-800
Publication date:
2010-12-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:8be93d5e-2b90-4848-ad2d-6e4211514324
Source identifiers:
241175
Local pid:
pubs:241175

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