Autosomal recessive oculopharyngeal muscular dystrophy.

Author:

Fried K,Arlozorov A,Spira R

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. On brachydactyly and symphalangism, In Treasury of Human Inheritance;Bell, J.,1951

2. Four generations of short thumb;Sayles, L.P.; Jailer, J.W.;Journal of Heredity,1934

3. Synopsis of hand malformations with particular emphasis on genetic factors;Temtamy, S.; McKusick, V.A.;Birth Defects Original Article Series,1969

4. Progressive dystrophy of external ocular muscles (ocular myopathy) was reviewed by Kiloh and Nevin (1951). In 1962, Victor et al described and gave the name of oculopharyngeal muscular dystrophy to a familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. Their report included a sporadic case and a family which demonstrated an autosomal dominant mode of inheritance. Since then several families and some single case reports have been published and the nosological entity of oculopharyngeal muscular dystrophy has been accepted as a hereditary disease due to an autosomal dominant gene;Rowland, et al, et al,;(Hayes et al; Schotland and,1963

5. The proposita, case 1 (VI.10, Fig. 1), was the youngest in her sibship. The family is Ashkenazi Jewish of Hungarian origin. The parents of the proposita are Received,1974

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