TY - JOUR
T1 - Dystrophinopathy presenting as congenital muscular dystrophy
AU - Kyriakides, Theodore
AU - Gabriel, Gabriel
AU - Drousiotou, Anthi
AU - Meznanic-Petrusa, Mija
AU - Middleton, Lefkos
PY - 1994
Y1 - 1994
N2 - We report a 3 1 2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the basis of the age of onset, a myopathic EMG, an elevated creatine kinase and a dystrophic muscle biopsy. Subsequently, dystrophin immunocytochemistry and immunoblot analysis showed complete absence of dystrophin. We suggest that male cases of CMD should undergo dystrophin analysis, if there is calf hypertrophy and markedly elevated CK (>2000 U/l).
AB - We report a 3 1 2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the basis of the age of onset, a myopathic EMG, an elevated creatine kinase and a dystrophic muscle biopsy. Subsequently, dystrophin immunocytochemistry and immunoblot analysis showed complete absence of dystrophin. We suggest that male cases of CMD should undergo dystrophin analysis, if there is calf hypertrophy and markedly elevated CK (>2000 U/l).
KW - Congenital muscular dystrophy
KW - dystrophinopathy
UR - http://www.scopus.com/inward/record.url?scp=0027998332&partnerID=8YFLogxK
U2 - 10.1016/0960-8966(94)90075-2
DO - 10.1016/0960-8966(94)90075-2
M3 - Article
C2 - 7981596
AN - SCOPUS:0027998332
SN - 0960-8966
VL - 4
SP - 387
EP - 392
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 4
ER -