Abstract
A 5-year-old boy with occasional pain of brief duration in the right or the left leg during exercise since the age of 4 years in reported. There was no weakness nor any other abnormality at the neurological examination. The serum creatine phosphokinase activity was elevated three times out of four. The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed. There was no histological nor histochemical abnormalities at the routine techniques. However, a completely negative reaction with myoadenylate deaminase (MADA) stain was found. The MADA enzymatic activity in the muscle was very low. It is likely that the clinical syndrome is related to MADA deficiency.
| Original language | English |
|---|---|
| Pages (from-to) | 89-93 |
| Number of pages | 5 |
| Journal | Helvetica Paediatrica Acta |
| Volume | 39 |
| Issue number | 1 |
| Publication status | Published - 1984 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain. / Rossi, L. N.; Cornelio, F.; Dworzak, F.; Morandi, L.; Rossi, G.; Di Mauro, S.
In: Helvetica Paediatrica Acta, Vol. 39, No. 1, 1984, p. 89-93.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain
AU - Rossi, L. N.
AU - Cornelio, F.
AU - Dworzak, F.
AU - Morandi, L.
AU - Rossi, G.
AU - Di Mauro, S.
PY - 1984
Y1 - 1984
N2 - A 5-year-old boy with occasional pain of brief duration in the right or the left leg during exercise since the age of 4 years in reported. There was no weakness nor any other abnormality at the neurological examination. The serum creatine phosphokinase activity was elevated three times out of four. The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed. There was no histological nor histochemical abnormalities at the routine techniques. However, a completely negative reaction with myoadenylate deaminase (MADA) stain was found. The MADA enzymatic activity in the muscle was very low. It is likely that the clinical syndrome is related to MADA deficiency.
AB - A 5-year-old boy with occasional pain of brief duration in the right or the left leg during exercise since the age of 4 years in reported. There was no weakness nor any other abnormality at the neurological examination. The serum creatine phosphokinase activity was elevated three times out of four. The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed. There was no histological nor histochemical abnormalities at the routine techniques. However, a completely negative reaction with myoadenylate deaminase (MADA) stain was found. The MADA enzymatic activity in the muscle was very low. It is likely that the clinical syndrome is related to MADA deficiency.
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UR - http://www.scopus.com/inward/citedby.url?scp=0021261610&partnerID=8YFLogxK
M3 - Article
C2 - 6724999
AN - SCOPUS:0021261610
VL - 39
SP - 89
EP - 93
JO - Helvetica Paediatrica Acta
JF - Helvetica Paediatrica Acta
SN - 0018-022X
IS - 1
ER -