Abstract:
:In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Cullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have generally been carried out in the field. The condition, facioscapulohumeral muscular dystrophy of Landouzy-Déjérine, has been found to have affected at least 53 individuals, 9 of whom are deceased. Both sexes in six generations are involved as would be expected from a dominant mendelian gene freshly mutated at least 100 years ago. Additionally, some 19 individuals have been described as having the disease or some of its stigmata, but have not been examined by us. Initial signs and symptoms seem to appear early in infancy, though variable, and because of complete dominance, some 75 individuals are at risk. The disease progresses slowly without interfering significantly with survival and reproduction. For prevention the so-called Cullar example measures have been taken to improve the area culturally and socioeconomically.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Sayli BS,Yaltkaya K,Cin Sdoi
10.1007/BF00273001subject
Has Abstractpub_date
1984-01-01 00:00:00pages
201-8issue
2eissn
0340-6717issn
1432-1203journal_volume
67pub_type
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