Case reportMerosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation
Section snippets
Case report
We report on two siblings, an 18-year-old girl (patient 1) and a 16-year-old boy (patient 2) with non-consanguineous, healthy parents and a healthy younger brother. One maternal uncle had epilepsy and MR and a second cousin died at 6 months of age with cataract plus cardiac dysfunction of an unrevealed cause.
Both the siblings were born at term after an uneventful pregnancy and had bilateral cataract observed at 6 months of age, and surgically removed at the age of 2 years. The older child also
Discussion
The diagnosis of CMD has been used for a heterogeneous group of infants who present congenital muscle disorder with variable degrees of severity, muscle biopsy with dystrophic changes, and an inconsistent association with ocular and/or CNS anomalies. The mode of inheritance is autosomal recessive, but the autosomal dominant type was verified in a few families [1].
Classification of CMD was greatly simplified by the discovery of gene location for the Fukuyama type of CMD [2]and of merosin (α-2
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