An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy

We evaluated the expression of a select panel of growth factors and their receptors, including fibroblast growth factor 1 (FGF‐1), fibroblast growth factor 2 (FGF‐2), platelet‐derived growth factor (PDGF), FGF receptor 1 (FGF‐R1), FGF receptor 3 (FGF‐R3), FGF receptor 4 (FGF‐R4), PDGF receptor α (PD...

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Veröffentlicht in:Muscle & nerve 2000-04, Vol.23 (4), p.490-497
Hauptverfasser: Saito, Akiko, Higuchi, Itsuro, Nakagawa, Masanori, Saito, Mineki, Uchida, Yuichi, Inose, Masaru, Kasai, Takefumi, Niiyama, Takahito, Fukunaga, Hidetoshi, Arimura, Kimiyoshi, Osame, Mitsuhiro
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container_end_page 497
container_issue 4
container_start_page 490
container_title Muscle & nerve
container_volume 23
creator Saito, Akiko
Higuchi, Itsuro
Nakagawa, Masanori
Saito, Mineki
Uchida, Yuichi
Inose, Masaru
Kasai, Takefumi
Niiyama, Takahito
Fukunaga, Hidetoshi
Arimura, Kimiyoshi
Osame, Mitsuhiro
description We evaluated the expression of a select panel of growth factors and their receptors, including fibroblast growth factor 1 (FGF‐1), fibroblast growth factor 2 (FGF‐2), platelet‐derived growth factor (PDGF), FGF receptor 1 (FGF‐R1), FGF receptor 3 (FGF‐R3), FGF receptor 4 (FGF‐R4), PDGF receptor α (PDGF‐Rα), PDGF receptor β (PDGF‐Rβ), and heparan sulfate proteoglycan (HSPG), in muscle biopsy specimens from nine facioscapulohumeral muscular dystrophy (FSHD) patients using immunohistochemistry. Two cases of Duchenne‐type muscular dystrophy (DMD), two of Becker‐type muscular dystrophy (BMD), and one of limb‐girdle‐type muscular dystrophy (LGMD) were also investigated. Widespread immunostaining for FGF‐1 and FGF‐2 on the sarcolemma and overexpression of FGF‐R4 in endomysial and perimysial connective tissue were seen in one patient with a severe clinical phenotype of FSHD who had respiratory failure. Standard histochemistry in this patient revealed marked interstitial fibrosis and lobulated fibers. The overexpression of FGF and FGF‐R4 in this severe FSHD case may be associated with the muscle fibrosis and disease severity. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 490–497, 2000.
doi_str_mv 10.1002/(SICI)1097-4598(200004)23:4<490::AID-MUS6>3.0.CO;2-K
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Two cases of Duchenne‐type muscular dystrophy (DMD), two of Becker‐type muscular dystrophy (BMD), and one of limb‐girdle‐type muscular dystrophy (LGMD) were also investigated. Widespread immunostaining for FGF‐1 and FGF‐2 on the sarcolemma and overexpression of FGF‐R4 in endomysial and perimysial connective tissue were seen in one patient with a severe clinical phenotype of FSHD who had respiratory failure. Standard histochemistry in this patient revealed marked interstitial fibrosis and lobulated fibers. The overexpression of FGF and FGF‐R4 in this severe FSHD case may be associated with the muscle fibrosis and disease severity. © 2000 John Wiley &amp; Sons, Inc. 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Two cases of Duchenne‐type muscular dystrophy (DMD), two of Becker‐type muscular dystrophy (BMD), and one of limb‐girdle‐type muscular dystrophy (LGMD) were also investigated. Widespread immunostaining for FGF‐1 and FGF‐2 on the sarcolemma and overexpression of FGF‐R4 in endomysial and perimysial connective tissue were seen in one patient with a severe clinical phenotype of FSHD who had respiratory failure. Standard histochemistry in this patient revealed marked interstitial fibrosis and lobulated fibers. The overexpression of FGF and FGF‐R4 in this severe FSHD case may be associated with the muscle fibrosis and disease severity. © 2000 John Wiley &amp; Sons, Inc. Muscle Nerve 23: 490–497, 2000.</abstract><cop>New York</cop><pub>John Wiley &amp; Sons, Inc</pub><pmid>10716758</pmid><doi>10.1002/(SICI)1097-4598(200004)23:4&lt;490::AID-MUS6&gt;3.0.CO;2-K</doi><tpages>8</tpages></addata></record>
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subjects Adolescent
Adult
Age of Onset
Biological and medical sciences
Biopsy
Child
Child, Preschool
Diseases of striated muscles. Neuromuscular diseases
facioscapulohumeral muscular dystrophy
Female
FGF
FGF receptor 4
Fibroblast Growth Factor 1
Fibroblast Growth Factor 2 - analysis
Fibroblast Growth Factor 2 - genetics
fibrosis
growth factor
Humans
Immunohistochemistry
Male
Medical sciences
Middle Aged
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscular Dystrophy, Facioscapulohumeral - genetics
Muscular Dystrophy, Facioscapulohumeral - pathology
Neurology
Phenotype
Receptor, Fibroblast Growth Factor, Type 4
Receptors, Fibroblast Growth Factor - analysis
Receptors, Fibroblast Growth Factor - genetics
respiratory failure
title An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy
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