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  • Journal of Experimental and Clinical Medicine
  • Volume:6 Issue:1
  • Ekstremite Kemer Tipi Musküler Distrofili 6 Vakanın Takdimi

Ekstremite Kemer Tipi Musküler Distrofili 6 Vakanın Takdimi

Authors : G ÖKTEN, G TUNALI
Pages : 0-0
Doi:10.5835/jecm.v6i1.922
View : 28 | Download : 8
Publication Date : 2009-12-22
Article Type : Other Papers
Abstract :SUMMARY THE PRESENTATION OF 6 CASES WITH LIMB-GIRDLE MUSCULAR DISTROPHY In this paper, 6 individuals in both sexes from two different families with limb-girdle muscular dystrophy were presented. The result of physical and laboratory examination were in accordance with limb-girdle muscular dystrophy and the inheritance pattern was also with autosomal recessive in both families. There was no other abnormality related to the disease. The family was given genetic counselling. ÖZET Bu yazıda, iki farklı ailede her 2 cinsiyetten 6 kişide ekstremite kemer tipi musküler distrofi sunulmuştur. Fizik ve laboratuvar bulguları kemer tipi musküler distrofi ile, genetik bulgular ise her iki ailede de otozomal resesif kalıtımla bağdaşmakta idi. Kondisyonla assosiye diğer bir anomaliye rastlanmadı. Bu vesile ili ilgili genetik danışmanlık yapıldı.
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