Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.
We report on a male patient aged 38, affected by a syndrome whose characteristic features include onset in early childhood, slow progression, diffuse muscle weakness, mental retardation and cardiomyopathy. Muscle biopsy showed myopathic changes compatible with muscular dystrophy. However, immunostaining for dystrophin as well as 50 and 43 kDa dystrophin-associated glycoproteins (DAGs) was normal. Genetic analysis suggested that direct involvement of the dystrophin gene was highly unlikely. No other family members were affected. Although the clinical picture is reminiscent of Duchenne/Becker muscular dystrophy, the immunologically and genetically documented lack of dystrophin involvement suggests that this particular syndrome is as yet undescribed.
Villanova
M
M
Laboratory of Neuropathology, University of Siena, Italy.
Malandrini
A
A
Biancotti
R
R
Löfgren
A
A
Mongini
T
T
Six
J
J
Salvestroni
R
R
Parrotta
E
E
Van Broeckhoven
C
C
Paolozzi
C
C
Guazzi
G
G
D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics / Q000503:physiopathology*; D015342:DNA Probes; D016189:Dystrophin / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D015183:Restriction Mapping
D015342:DNA Probes; D016189:Dystrophin