Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

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...

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Bibliographic Details
Main Authors:	Munot, P, Lashley, D, Jungbluth, H, Feng, L, Pitt, M, Robb, SA, Palace, J, Jayawant, S, Kennet, R, Beeson, D, Cullup, T, Abbs, S, Laing, N, Sewry, C, Muntoni, F
Format:	Journal article
Language:	English
Published:	2010

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

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