Exercise induced cramps and myoglobinuria in dystrophinopathy – a report of three Malaysian patients
- Author:
Azlina Ahmad Annuar
;
Kum Thong Wong
;
Ai Sze Ching
;
Meow Keong Thong
;
Sau Wei Wong
;
Feizel Alsiddiq
;
Lai Choo Ong
;
Khean Jin Goh
- Publication Type:Journal Article
- From:Neurology Asia
2010;15(2):125-131
- CountryMalaysia
- Language:English
-
Abstract:
Dystrophinopathies commonly present as Duchenne or Becker muscular dystrophy but rare, unusual
phenotypes have also been described. We have identifi ed three Malaysian boys with an unusual form
of dystrophinopathy, presenting with exercise-induced cramps and myoglobinuria, but with no apparent
muscle weakness. Immunohistochemistry for dystrophin and genetic analysis confi rmed the diagnosis.
The frequency of this phenotype is unknown but there have been several case reports. Consistent with
these reports, we also found that two of our patients had deletions in the rod domain of dystrophin,
which has been suggested to be associated with this unusual manifestation
- Full text:P020150902385659269295.pdf
