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- W2040976731 abstract "In a family living in a small isolated village in Finnmark county, Norway, we have observed 7 persons suffering from congenital muscular dystrophy. Their symptoms were similar to those seen in congenital amyotonia (Oppenheim). Several children in the family had died very early in life; 3 others had been still born. In the third generation (III, Fig. 1) the child mortality was 33.3 per cent, whereas the average child mortality in Finnmark in the period 1926–1930 was 9.17 per cent. In the same generation, 2 siblings (Cases 1 and 2) were affected. In addition to the muscular dystrophy there was zgonadal dysgenesis—ovarian agenesis and testicular insufficiency resembling Klinefelter's syndrome. Among the 20 persons in the fourth generation (IV, Fig. 1), 5 were affected (Cases 3, 4, 5, 6 and 7). In 1 of these, a girl aged 4 (Case 7), histologic examination demonstrated a slightly atrophic ovary, although the internal genitalia appeared normal on inspection. Later, bilateral cataracts developed in this child." @default.
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- W2040976731 date "1956-12-01" @default.
- W2040976731 modified "2023-10-18" @default.
- W2040976731 title "FAMILIAL CONGENITAL MUSCULAR DYSTROPHY WITH GONADAL DYSGENESIS" @default.
- W2040976731 doi "https://doi.org/10.1210/jcem-16-12-1614" @default.
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