Ekstremite Kemer Tipi Musküler Distrofili 6 Vakanın Takdimi
1989
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.
OZET
Bu yazida, iki farkli ailede her 2 cinsiyetten 6 kiside ekstremite kemer tipi muskuler distrofi sunulmustur. Fizik ve laboratuvar bulgulari kemer tipi muskuler distrofi ile, genetik bulgular ise her iki ailede de otozomal resesif kalitimla bagdasmakta idi. Kondisyonla assosiye diger bir anomaliye rastlanmadi. Bu vesile ili ilgili genetik danismanlik yapildi.
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