Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy.
A 25-year-old woman with negative family history and delayed motor development presented hypotrophy of the right lower limb and calf hypertrophy since age 7 and she complained of muscle weakness since 23. Neurological examination showed a thin elongated face, high-arched palate, high-pitched voice, proximal wasting and weakness, impairment of distal muscles in the lower limbs. CK was 3, 034 U/l, EMG showed a myopathic pattern. Muscle biopsy displayed dystrophic features with diffuse dystrophin deficiency; immunoblotting demonstrated quantitative reduction of the protein and normal molecular weight. Lyonization study showed skewed X-inactivation with the maternal X active. Seven years' follow-up did not show progression of the disease.
Palmucci
L
L
Centro per le Malattie Neuromuscolari 'Paolo Peirolo', Università di Torino, Italia.
Doriguzzi
C
C
Mongini
T
T
Chiadò-Piat
L
L
Ugo
I
I
D000328:Adult; D001706:Biopsy; D018450:Disease Progression; D016189:Dystrophin / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006580:Genetic Carrier Screening / Q000379:methods; D006579:Heterozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D012737:Sex Factors
D016189:Dystrophin