Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies

Diniz, Gulden; Ünalp, Aycan; TÜRE, HATİCE SABİHA; Hazan, Filiz; ÖZGÖNÜL, Figen; AKHAN, GALIP

Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies

Gülden DİNİZ, (Tepecik Eğitim ve Araştırma Hastanesi, Patoloji ve Pediyatrik Nöroloji Bölümü, İzmir)

Aycan ÜNALP, (İzmir Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi, Pediyatrik Nöroloji ve Genetik Bölümü, İzmir)

Filiz HAZAN, (İzmir Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi, Pediyatrik Nöroloji ve Genetik Bölümü, İzmir)

Figen ÖZGÖNÜL, (Tepecik Eğitim ve Araştırma Hastanesi, Patoloji ve Pediyatrik Nöroloji Bölümü, İzmir)

HATİCE SABİHA TÜRE, (İzmir Katip Çelebi Üniversitesi, Nöroloji Ana Bilim Dalı, İzmir)

Galip AKHAN (İzmir Katip Çelebi Üniversitesi, Nöroloji Ana Bilim Dalı, İzmir)

İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi

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Yıl: 2017 Cilt: 7 Sayı: 3 Sayfa Aralığı: 247 - 250 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies

Öz:

Anahtar Kelime:

Konular: Pediatri

Genetik ve immünohistokimyasal incelemelerin birlikte kullanımı sarkoglikanopatilerin ayırıcı tanısında önemli bir basamaktır

Öz:

Anahtar Kelime:

Konular: Pediatri

Belge Türü: Makale Makale Türü: Editöre Mektup Erişim Türü: Erişime Açık

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2. Sandonà D, Betto R. Sarcoglycanopathies: Molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med 2009;11:e28. https://doi.org/10.1017/S1462399409001203
3. Ferreira AF, Carvalho MS, Resende MB, Wakamatsu A, Reed UC, Marie SK. Phenotypic and immunohistochemical characterization of sarcoglycanopathies. Clinics (Sao Paulo) 2011;66:1713-19.
4. Diniz G, Hazan F, Yildirim HT, Unalp A, Polat M, Serdaroğlu G, et al. Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. Turk Patoloji Derg 2014;30(2):111-7. https://doi.org/10.5146/tjpath.2014.01239
5. Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2001;11:80-7. https://doi.org/10.1016/S0960-8966(00)00154-1
6. Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, et al. Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? Neuromuscul Disord 2008;18:934-41. https://doi.org/10.1016/j.nmd.2008.08.003
7. Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008;16:793-803. https://doi.org/10.1038/ejhg.2008.9
8. Diniz G, Tosun Yildirim H, Gokben S, Serdaroglu G, Hazan F, Yararbas K, et al. Concomitant alpha- and gammasarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene. Case Rep Genet 2014;2014:248561. https://doi.org/10.1155/2014/248561
9. Diniz G, Tosun Yildirim H, Akinci G, Hazan F, Ozturk A, Yararbas K, et al. Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. Pediatr Neurol 2014;50(6):640-7. https://doi.org/10.1016/j.pediatrneurol.2013.12.024
10. Diniz G, Tekgul H, Hazan F, Yararbas K, Tukun A. Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene. Balkan J Med Genet 2016;18(2):71-76.
11. Moreira ES, Vainzof M, Suzuki OT, Pavanello RC, Zatz M, Passos-Bueno MR. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet 2003;40:E12. https://doi.org/10.1136/jmg.40.2.e12
12. Dinçer P, Akçören Z, Demir E, Richard I, Sancak O, Kale G, et al. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. J Med Genet 2000;37:361-7. https://doi.org/10.1136/jmg.37.5.361
13. Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, et al. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. J Med Genet 2017;54(3):176- 185. https://doi.org/10.1136/jmedgenet-2016-104108

APA	Diniz G, Ünalp A, Hazan F, ÖZGÖNÜL F, TÜRE H, AKHAN G (2017). Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. , 247 - 250.
Chicago	Diniz Gulden,Ünalp Aycan,Hazan Filiz,ÖZGÖNÜL Figen,TÜRE HATİCE SABİHA,AKHAN GALIP Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. (2017): 247 - 250.
MLA	Diniz Gulden,Ünalp Aycan,Hazan Filiz,ÖZGÖNÜL Figen,TÜRE HATİCE SABİHA,AKHAN GALIP Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. , 2017, ss.247 - 250.
AMA	Diniz G,Ünalp A,Hazan F,ÖZGÖNÜL F,TÜRE H,AKHAN G Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. . 2017; 247 - 250.
Vancouver	Diniz G,Ünalp A,Hazan F,ÖZGÖNÜL F,TÜRE H,AKHAN G Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. . 2017; 247 - 250.
IEEE	Diniz G,Ünalp A,Hazan F,ÖZGÖNÜL F,TÜRE H,AKHAN G "Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies." , ss.247 - 250, 2017.
ISNAD	Diniz, Gulden vd. "Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies". (2017), 247-250.

APA	Diniz G, Ünalp A, Hazan F, ÖZGÖNÜL F, TÜRE H, AKHAN G (2017). Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, 7(3), 247 - 250.
Chicago	Diniz Gulden,Ünalp Aycan,Hazan Filiz,ÖZGÖNÜL Figen,TÜRE HATİCE SABİHA,AKHAN GALIP Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi 7, no.3 (2017): 247 - 250.
MLA	Diniz Gulden,Ünalp Aycan,Hazan Filiz,ÖZGÖNÜL Figen,TÜRE HATİCE SABİHA,AKHAN GALIP Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, vol.7, no.3, 2017, ss.247 - 250.
AMA	Diniz G,Ünalp A,Hazan F,ÖZGÖNÜL F,TÜRE H,AKHAN G Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi. 2017; 7(3): 247 - 250.
Vancouver	Diniz G,Ünalp A,Hazan F,ÖZGÖNÜL F,TÜRE H,AKHAN G Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi. 2017; 7(3): 247 - 250.
IEEE	Diniz G,Ünalp A,Hazan F,ÖZGÖNÜL F,TÜRE H,AKHAN G "Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies." İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, 7, ss.247 - 250, 2017.
ISNAD	Diniz, Gulden vd. "Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies". İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi 7/3 (2017), 247-250.