Dystrophin test in differential diagnosis of childhood muscular dystrophies.
Two cases of childhood muscular dystrophy are described. One of them had clinical features suggestive of Emery-Dreifuss muscular dystrophy and the other with some features of Prader-Willi syndrome, besides proximal muscle weakness. Muscle biopsy from both cases revealed a clear abnormality of dystrophin, and were diagnosed as having Duchenne muscular dystrophy (DMD) by immunofluorescence examination; that is, absent dystrophin at the membrane of the muscle fibers. The clinical spectrum of DMD-related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed.
Verma
A
A
Department of Neurology, All India Institute Of Medical Sciences, New Delhi.
Sarkar
C
C
Padma
M V
MV
Dhir
R
R
Jain
S
S
Maheshwari
M C
MC
D001706:Biopsy; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000032:analysis*; D005455:Fluorescent Antibody Technique; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis*; D011218:Prader-Willi Syndrome / Q000175:diagnosis
D016189:Dystrophin