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

被引：55

作者：

Munot, P. ^{[1
]}

Lashley, D. ^{[3
]}

Jungbluth, H. ^{[4
,5
]}

Feng, L. ^{[1
]}

Pitt, M. ^{[2
]}

Robb, S. A. ^{[1
]}

Palace, J. ^{[3
]}

Jayawant, S. ^{[3
]}

Kennet, R. ^{[3
]}

Beeson, D. ^{[3
,6
]}

Cullup, T. ^{[7
]}

Abbs, S. ^{[7
]}

Laing, N. ^{[8
,9
]}

Sewry, C. ^{[1
,10
]}

Muntoni, F. ^{[1
]}

机构：

[1] Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

[2] Great Ormond St Hosp Sick Children, Dept Neurophysiol, London WC1N 1EH, England

[3] John Radcliffe Hosp, Dept Neurol, Oxford OX3 9DU, England

[4] Evelina Childrens Hosp Guys & St Thomas NHS Fdn T, Dept Paediat Neurol, Neuromuscular Serv, London, England

[5] Kings Coll London, Clin Neurosci Div, London WC2R 2LS, England

[6] Weatherall Inst Mol Med, Neurosci Grp, Oxford OX3 9DS, England

[7] Guys Hosp, DNA Lab, GSTS Pathol, Genet Ctr, London SE1 9RT, England

[8] Univ Western Australia, Med Res Ctr, Western Australian Inst Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia

[9] Royal Perth Hosp, Dept Anat Pathol, Nedlands, WA, Australia

[10] Orthoped Hosp, Wolfson Ctr Inherited Neuromuscular Dis, RJAH, Oswestry, Shrops, England

来源：

NEUROMUSCULAR DISORDERS | 2010年 / 20卷 / 12期

基金：

英国医学研究理事会;

关键词：

Congenital fibre type disproportion (CFTD); Congenital myopathy; Tropomyosin 3 (TPM 3); Congenital myasthenia; NEMALINE MYOPATHY; JITTER;

D O I：

10.1016/j.nmd.2010.07.274

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 Case1 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-old boy with hypotonia feeding difficulties motor delay and scoliosis also requiring non-invasive ventilation while ambulant Muscle biopsies in both cases showed fibre type disproportion Muscle MRI (Case1) showed mild uniformly Increased interstitial tissue in and around the muscles Sequencing of TPM3 in case 1 revealed a previously described heterozygous c 503G > A(pArg168His) missense variant in exon 5 and a novel heterozygous missense mutation c 521A > C(pGlu174Ala) also in exon 5 in case 2 A mild abnormality in the single fibre EMG was documented on electrophysiology in both cases These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations (C) 2010 Elsevier B V All rights reserved

引用

页码：796 / 800

页数：5

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