Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy

A 25-year-old woman with negative family history and delayed motor developm ent presented hypotrophy of the right lower limb and calf hypertrophy since age 7 and she complained of muscle weakness since 23. Neurological examina tion showed a thin elongated face, high arched palate, high-pitched voice, proximal wasting and weakness, impairment of distal muscles in the lower li mbs. CK was 3,034 U/l, EMG showed a myopathic pattern. Muscle biopsy displa yed dystrophic features with diffuse dystrophin deficiency; immunoblotting demonstrated quantitative reduction of the protein and normal molecular wei ght. Lyonization study showed skewed X-inactivation with the maternal X act ive. Seven years' follow-up did not show progression of the disease. Copyri ght (C) 1999 S. Karger AG, Basel.