Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

doi:10.1016/0960-8966(94)00058-h

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Article

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

Neuromuscular disorders : NMD - 1 May 1995

Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A

Abstract excerpt

Muscle-Eye-Brain disease (MEB) and Fukuyama type congenital muscular dystrophy (FCMD) are clinically similar autosomal recessive diseases, characterized by congenital muscular dystrophy and severe mental retardation, raising the possibility that they might be caused by mutations of the same gene....

Topics

Adolescent
Adult
Alleles
Brain
Child
Child, Preschool
Eye Abnormalities
Female
Finland
Genetic Linkage
Humans
Lod Score
Male
Middle Aged
Muscular Dystrophies
Pedigree

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