Inclusion body myopathy-like changes in a family with cerebellar atrophy, mental retardation and abnormal pupils.
Gambelli
S
S
Dotti
M T
MT
Malandrini
A
A
Berti
G
G
Serni
G
G
Federico
A
A
D000328:Adult; D001706:Biopsy; D004576:Electromyography; D005190:Family; D005220:Fathers; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D002527:Myoclonic Cerebellar Dyssynergia / Q000235:genetics / Q000473:pathology*; D010290:Parents; D011681:Pupil Disorders / Q000235:genetics / Q000473:pathology*