Abstract:
:A boy, who had shown muscle weakness and hypotonia from early childhood and fiber type disproportion (FTD) with no dystrophic changes on muscle biopsy, was initially diagnosed as having congenital fiber type disproportion (CFTD). Subsequently, he developed cardiac conduction blocks. We reconsidered the diagnosis as possible LMNA-myopathy and found a heterozygous mutation in the LMNA gene. This encouraged us to search for LMNA mutations on 80 patients who met the diagnostic criteria of CFTD with unknown cause. Two patients including the above index case had heterozygous in-frame deletion mutations of c.367_369delAAG and c.99_101delGGA in LMNA, respectively. Four of 23 muscular dystrophy patients with LMNA mutation also showed fiber type disproportion (FTD). Importantly, all FTD associated with LMNA-myopathy were caused by hypertrophy of type 2 fibers as compared with age-matched controls, whereas CFTD with mutations in ACTA1 or TPM3 showed selective type 1 fiber atrophy but no type 2 fiber hypertrophy. Although FTD is not a constant pathological feature of LMNA-myopathy, we should consider the possibility of LMNA-myopathy whenever a diagnosis of CFTD is made and take steps to prevent cardiac insufficiency.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Kajino S,Ishihara K,Goto K,Ishigaki K,Noguchi S,Nonaka I,Osawa M,Nishino I,Hayashi YKdoi
10.1016/j.jns.2014.02.036subject
Has Abstractpub_date
2014-05-15 00:00:00pages
94-8issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(14)00141-5journal_volume
340pub_type
杂志文章abstract:BACKGROUND:Transverse myelitis is the common presentation in demyelinating conditions. OBJECTIVE:To determine the characteristics of spinal lesions among each type of demyelinating diseases. METHODS:Medical records and spinal imaging of patients who were [1] older than 18years, [2] had at least one attack of TM, [3] ...
journal_title:Journal of the neurological sciences
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更新日期:2017-08-15 00:00:00
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pub_type: 杂志文章
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更新日期:2013-08-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2011-02-15 00:00:00
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更新日期:1992-10-01 00:00:00
abstract::Bacillus Calmette-Guérin (BCG) and Mycobacterium avium subspecies paratuberculosis (MAP) have been associated with multiple sclerosis (MS). Clinical data indicates that BCG vaccination exerts anti-inflammatory effects in MS; conversely, MAP is thought to be one of the possible infectious factors responsible of MS thro...
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更新日期:2014-12-15 00:00:00
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更新日期:2002-06-15 00:00:00
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pub_type: 杂志文章
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更新日期:1991-06-01 00:00:00
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更新日期:2009-02-01 00:00:00
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更新日期:2014-02-15 00:00:00
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journal_title:Journal of the neurological sciences
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更新日期:2014-10-15 00:00:00
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