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Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease

✍ Scribed by Mandel, Hanna ;Brik, Riva ;Ludatscher, Ruth ;Braun, Jacob ;Berant, Moshe


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
582 KB
Volume
47
Category
Article
ISSN
0148-7299

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We report a new form of congenital muscular dystrophy (CMD) in 4 patients from three unrelated families with probable autosomalrecessive inheritance. All patients had the clinical characteristics of merosinpositive congenital muscular dystrophy, but had marked mental retardation. The disease was slo