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
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Abstract
Limb-girdle muscular dystrophy type 2E (LGMD-
2E) is caused by autosomal recessive defects
in the beta sarcoglycan (SGCB) gene located on
chromosome 4q12. In this case report, the clinical
findings, histopathological features and molecular
genetic data in a boy with β sarcoglycanopathy are
presented. An 18-month-old boy had a very high serum
creatinine phosphokinase (CPK) level that was
accidentally determined. The results of molecular
analyses for the dystrophin gene was found to be
normal. He underwent a muscle biopsy which showed
dystrophic features. Immunohistochemistry showed
that there was a total loss of sarcolemmal sarcoglycan
complex. DNA analysis revealed a large homozygous
deletion in the SCGB gene. During 4 years of
follow-up, there was no evidence to predict a severe
clinical course except the muscle enzyme elevation
and myopathic electromyography (EMG) finding.
The presented milder phenotype of LGMD-2E with a
large deletion in the SGCB gene provided additional
support for the clinical heterogeneity and pathogenic
complexity of the disease.
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