Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies

Alpha dystroglycanopathies are heterogeneous group of disorders both phenotypically and genetically. A subgroup of these patients has characteristic brain imaging findings. Four patients with typical imaging findings of alpha dystroglycanopathy are reported. Phenotypic features included: global deve...

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Veröffentlicht in:	Neurology India 2010-05, Vol.58 (3), p.460-465
Hauptverfasser:	Bindu, Parayil S, Gayathri, Narayanappa, Bharath, Rose D, Mahadevan, Anita, Sinha, Sanjib, Taly, A B
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine triphosphatase Biosynthesis Brain Brain - pathology Brain diseases Care and treatment Child, Preschool Cognition Disorders - genetics Cognition Disorders - pathology Cognition Disorders - physiopathology Consanguinity Cysts Diagnosis Dystroglycans - genetics Form perception Genotype & phenotype Histology Humans Infant Magnetic resonance imaging Magnetic Resonance Spectroscopy Male Malformations of Cortical Development - genetics Malformations of Cortical Development - pathology Malformations of Cortical Development - physiopathology Mental retardation Methods Microcephaly - genetics Microcephaly - pathology Microcephaly - physiopathology Muscular dystrophy Nervous system diseases Physiological aspects Proteins Seizures - etiology Studies
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