TABLE 1

Presenting Features, Clinicopathologic and Genetic Data of Children With Atypical Dystrophinopathy Presentations

PSexAPresenting Feature(s)CK (IU/L)Other Clinical FeaturesDystrophin MutationPredictionMuscle Biopsy
1F12Hypertransaminasemia (investigated for maternal hepatitis C)1000–2000Mild myalgia (from 6 y), toe walkingDeletion of exons 26–44 (in-frame)BMDMild dystrophic changes
2M11Social communication disorder720–2000Mild Achilles tightness, mild proximal weakness (MRC 4++)Deletion of exons 31–44 (in-frame) (de novo)BMDMild dystrophic changes, subtle dystrophin reduction on IHC
3M9Hypertransaminasemia (investigated for cyclical vomiting)2000–7000Cerebral palsy, hyopituitarismDeletion of exons 45–48 (in-frame) (maternally inherited)BMDND
4M13Social communication disorder900–1150Nilc.1026C>T; p.Ala3421ValBMDND
5M16Myalgia and/or rhabdomyolysis9000–5400Toe walking, mild proximal weakness (MRC 4++)Deletion of exons 10–29 (in-frame) (maternally inherited)BMDMild dystrophic changes, subtle dystrophin reduction on IHC
6F11Social communication disorder2500–3400NilDeletion of exon 56 (out-of-frame)DMDND
  • The inheritance pattern of the dystrophin mutation has not been determined where not indicated. The prediction is the expected phenotype in boys. A, current age; IHC, immunohistochemistry; ND, not done; P, patient number.