Muscle fibrillin deficiency in Marfan’s syndrome myopathy

Objective: To report a family with Marfan’s syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. Methods: 21 family members underwent detailed clinical examination, inc...

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Veröffentlicht in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2003-05, Vol.74 (5), p.633-638
Hauptverfasser: Behan, W M H, Longman, C, Petty, R K H, Comeglio, P, Child, A H, Boxer, M, Foskett, P, Harriman, D G F
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container_end_page 638
container_issue 5
container_start_page 633
container_title Journal of neurology, neurosurgery and psychiatry
container_volume 74
creator Behan, W M H
Longman, C
Petty, R K H
Comeglio, P
Child, A H
Boxer, M
Foskett, P
Harriman, D G F
description Objective: To report a family with Marfan’s syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. Methods: 21 family members underwent detailed clinical examination, including neurological and pulmonary assessment. Muscle biopsies in the most severely affected cases were immunostained using monoclonal antibodies to specific fibrillin components. Genomic DNA from all 21 members was analysed for mutations in the fibrillin gene, FBN1, on 15q21. Results: 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. Their muscle biopsies revealed an abnormality in fibrillin immunoreactivity. Conclusions: Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan’s syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy.
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Methods: 21 family members underwent detailed clinical examination, including neurological and pulmonary assessment. Muscle biopsies in the most severely affected cases were immunostained using monoclonal antibodies to specific fibrillin components. Genomic DNA from all 21 members was analysed for mutations in the fibrillin gene, FBN1, on 15q21. Results: 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. Their muscle biopsies revealed an abnormality in fibrillin immunoreactivity. Conclusions: Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan’s syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy.</description><identifier>ISSN: 0022-3050</identifier><identifier>EISSN: 1468-330X</identifier><identifier>DOI: 10.1136/jnnp.74.5.633</identifier><identifier>PMID: 12700307</identifier><identifier>CODEN: JNNPAU</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adenosine triphosphatase ; Adolescent ; Adult ; Antibodies ; Biological and medical sciences ; Biopsy ; DNA Mutational Analysis ; Electromyography ; Female ; Fibrillin-1 ; Fibrillins ; Humans ; Male ; Marfan syndrome ; Marfan Syndrome - complications ; Marfan Syndrome - genetics ; Marfan Syndrome - pathology ; Marfan’s syndrome ; Medical sciences ; Methodology ; Microfilament Proteins - analysis ; Microfilament Proteins - deficiency ; Microfilament Proteins - genetics ; Middle Aged ; Muscular Diseases - complications ; Muscular Diseases - genetics ; Muscular Diseases - pathology ; Mutation ; myopathy ; Pedigree ; Respiratory failure ; Respiratory Insufficiency - etiology ; Respiratory Insufficiency - genetics ; Respiratory Insufficiency - pathology ; Respiratory Muscles - pathology ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</subject><ispartof>Journal of neurology, neurosurgery and psychiatry, 2003-05, Vol.74 (5), p.633-638</ispartof><rights>Copyright 2003 Journal of Neurology Neurosurgery and Psychiatry</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 Journal of Neurology Neurosurgery and Psychiatry</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b589t-f9dfc6bfcba0cf0ec9404fd5f4e0702fe8076ce3686b8f220234d444453b2fbd3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738457/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738457/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=14716689$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12700307$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Behan, W M H</creatorcontrib><creatorcontrib>Longman, C</creatorcontrib><creatorcontrib>Petty, R K H</creatorcontrib><creatorcontrib>Comeglio, P</creatorcontrib><creatorcontrib>Child, A H</creatorcontrib><creatorcontrib>Boxer, M</creatorcontrib><creatorcontrib>Foskett, P</creatorcontrib><creatorcontrib>Harriman, D G F</creatorcontrib><title>Muscle fibrillin deficiency in Marfan’s syndrome myopathy</title><title>Journal of neurology, neurosurgery and psychiatry</title><addtitle>J Neurol Neurosurg Psychiatry</addtitle><description>Objective: To report a family with Marfan’s syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. Methods: 21 family members underwent detailed clinical examination, including neurological and pulmonary assessment. Muscle biopsies in the most severely affected cases were immunostained using monoclonal antibodies to specific fibrillin components. Genomic DNA from all 21 members was analysed for mutations in the fibrillin gene, FBN1, on 15q21. Results: 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. Their muscle biopsies revealed an abnormality in fibrillin immunoreactivity. Conclusions: Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan’s syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy.</description><subject>Adenosine triphosphatase</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Antibodies</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>DNA Mutational Analysis</subject><subject>Electromyography</subject><subject>Female</subject><subject>Fibrillin-1</subject><subject>Fibrillins</subject><subject>Humans</subject><subject>Male</subject><subject>Marfan syndrome</subject><subject>Marfan Syndrome - complications</subject><subject>Marfan Syndrome - genetics</subject><subject>Marfan Syndrome - pathology</subject><subject>Marfan’s syndrome</subject><subject>Medical sciences</subject><subject>Methodology</subject><subject>Microfilament Proteins - analysis</subject><subject>Microfilament Proteins - deficiency</subject><subject>Microfilament Proteins - genetics</subject><subject>Middle Aged</subject><subject>Muscular Diseases - complications</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Diseases - pathology</subject><subject>Mutation</subject><subject>myopathy</subject><subject>Pedigree</subject><subject>Respiratory failure</subject><subject>Respiratory Insufficiency - etiology</subject><subject>Respiratory Insufficiency - genetics</subject><subject>Respiratory Insufficiency - pathology</subject><subject>Respiratory Muscles - pathology</subject><subject>Sarcoidosis. 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Methods: 21 family members underwent detailed clinical examination, including neurological and pulmonary assessment. Muscle biopsies in the most severely affected cases were immunostained using monoclonal antibodies to specific fibrillin components. Genomic DNA from all 21 members was analysed for mutations in the fibrillin gene, FBN1, on 15q21. Results: 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. Their muscle biopsies revealed an abnormality in fibrillin immunoreactivity. Conclusions: Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan’s syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>12700307</pmid><doi>10.1136/jnnp.74.5.633</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
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subjects Adenosine triphosphatase
Adolescent
Adult
Antibodies
Biological and medical sciences
Biopsy
DNA Mutational Analysis
Electromyography
Female
Fibrillin-1
Fibrillins
Humans
Male
Marfan syndrome
Marfan Syndrome - complications
Marfan Syndrome - genetics
Marfan Syndrome - pathology
Marfan’s syndrome
Medical sciences
Methodology
Microfilament Proteins - analysis
Microfilament Proteins - deficiency
Microfilament Proteins - genetics
Middle Aged
Muscular Diseases - complications
Muscular Diseases - genetics
Muscular Diseases - pathology
Mutation
myopathy
Pedigree
Respiratory failure
Respiratory Insufficiency - etiology
Respiratory Insufficiency - genetics
Respiratory Insufficiency - pathology
Respiratory Muscles - pathology
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
title Muscle fibrillin deficiency in Marfan’s syndrome myopathy
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