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- Title
Exercise induced cramps and myoglobinuria in dystrophinopathy -- a report of three Malaysian patients.
- Authors
Annuar, Azlina Ahmad; Kum Thong Wong; Ai Sze Ching; Meow Keong Thong; Sau Wei Wong; Alsiddiq, Feizel; Lai Choo Ong; Khean Jin Goh
- Abstract
Dystrophinopathies commonly present as Duchenne or Becker muscular dystrophy but rare, unusual phenotypes have also been described. We have identified 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 confirmed 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.
- Subjects
MUSCLE cramps; DYSTROPHIN; IMMUNOHISTOCHEMISTRY; MYOGLOBINURIA; MUSCLE diseases; MALAYSIANS
- Publication
Neurology Asia, 2010, Vol 15, Issue 2, p125
- ISSN
1823-6138
- Publication type
Article