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EnglishA 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.
| Titolo: | Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy. |
| Autori Riconosciuti: | |
| Autori: | PALMUCCI L ;DORIGUZZI C ;MONGINI T ;CHIADÒ-PIAT L ;UGO I |
| Data di pubblicazione: | 1999 |
| Abstract: | 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. |
| Volume: | 42 |
| Pagina iniziale: | 221 |
| Pagina finale: | 224 |
| Rivista: | EUROPEAN NEUROLOGY |
| Appare nelle tipologie: | 03A-Articolo su Rivista |
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