Brain, Vol 121, Issue 4 581-588, Copyright © 1998 by Oxford University Press
K Bushby, LV Anderson, C Pollitt, I Naom, F Muntoni and L Bindoff
We have identified seven patients (including two sib pairs) with a
predominantly late onset limb-girdle muscular dystrophy in whom an absence
of merosin was noted on immunoblotting. Merosin immunocytochemistry was
normal, and no abnormalities were detected on immunostaining for the
various proteins known to be involved in the limb-girdle muscular
dystrophies (alpha, beta, gamma, delta sarcoglycan and calpain 3). Apart
from one patient, where muscle problems began in childhood, reported age at
onset of muscle weakness involving initially the proximal muscles of the
lower limbs ranged from 17 to 40 years. The pattern of muscle involvement
was similar from patient to patient, with hypertrophy of at least the calf
muscles, absence of scapular winging and predominant involvement of hip
flexors and adductors and hamstrings more than quadriceps. Serum creatine
kinase in all patients was at least 10 times normal, and muscle biopsies
showed non-specific dystrophic features. We believe that the patients
described here may represent a genetically distinct subset within the
limb-girdle muscular dystrophy group.
ARTICLES
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2
Department of Human Genetics, University of Newcastle upon Tyne, UK.
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