Congenital muscular dystrophy and cerebellar atrophy.
Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.
Echenne
B
B
Department of Neuropediatrics, Höpital St. Eloi, Montpellier, France.
Rivier
F
F
Tardieu
M
M
Brive
M
M
Robert
A
A
Pages
A M
AM
Pons
F
F
Mornet
D
D
D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital*