Balkan Journal of Medical Genetics

SARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENE
Diniz G1,*, Tekgul H2, Hazan F3, Yararbas K4, Tukun A5
*Corresponding Author: Associate Professor Gulden Diniz, Neuromuscular Disease Center, Tepecik Research Hospital, Kibris Sehitleri Cad. 51/11 Alsancak 35220, Izmir, Turkey. Tel: +90-232-362-5547. Fax: +90-232-362- 7144. E-mail: agdiniz@gmail.com
page: 71

REFERENCES

1. Dubowitz V, Sewry CA, Oldfors A, Eds. Muscular dystrophies and allied disorders II: Limbgirdle muscular dystrophies. Muscle Biopsy: A Practical Approach. Philadelphia, PA: Saunders/ Elsevier. 2013: 276-302. 2. Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995; 11(3): 257-265. 3. Sandonà D, Betto R. Sarcoglycanopathies: Molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009; 11: e28. doi: 10.1017/S146239940900 1203. 4. Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995; 11(3): 266-273. Erratum: Nat Genet. 1996; 12(1): 110. 5. Araishi K, Sasaoka T, Imamura M, Noguchi S, Hama H, Wakabayashi E, et al. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Hum Molec Genet. 1999; 8(9): 1589-1598. 6. Barresi R, Di Blasi C, Negri T, Brugnori R, Vitali A, Felisari G, et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet. 2000; 37(2): 102-107. 7. Diniz G, Tosun Yildirim H, Akinci G, Hazan F, Ozturk A, Yararbas K, et al. Sarcolemmal alpha and gam-ma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. Pediatr Neurol. 2014; 50(6): 640-647. 8. Diniz G, Tosun Yildirim H, Gokben S, Serdaroglu G, Hazan F, Yararbas K, et al. Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alphasarcoglycan gene. Case Rep Genet. 2014; 2014: 248561. doi: 10.1155/2014/248561. 9. Dincer P, Akcoren 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(5): 361-367. 10. 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(1): 80-87. 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(2): E12. doi: 10.1136/jmg.40.2.e12. 12. 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(12): 934-941. 13. 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(7): 793-803.

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