Muscle–eye–brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is
characterized by congenital muscular dystrophy, brain malformation and ocular …

Muscle–eye–brain disease (MEB), an autosomal recessive disorder, is characterized by
congenital muscular dystrophy, brain malformation, and ocular abnormalities. Previously, we …

Muscle–eye–brain disease (MEB, OMIM 253280) is an autosomal recessive disorder
characterized by a distinct triad of congenital muscular dystrophy, structural eye …

Background Mutations in protein-O-mannose-β1, 2-N-acetylglucosaminyltransferase 1
(POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy …

Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder
characterized by congenital muscular dystrophy and complex brain and eye abnormalities …

Background Muscle-eye-brain disease is a congenital muscular dystrophy with eye and
brain involvement due toPOMGnT1mutations. Objective To describe the clinical and …

Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by
congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O …

Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology
characterized by severe mental retardation, ocular abnormalities, congenital muscular …

METHODS Patients and families Fourteen Finnish families with a total of 19 patients, 25
parents, and four healthy siblings were included in the study. Of these families, one was …

Background: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs)
with autosomal recessive inheritance, often associated with CNS and ocular involvement …