Résumé :
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Communication n° 575 Introduction : X-linked myopathy with excessive autophagy (XMEA) is a rare genetic muscular disease with usually childhood onset progressive disease of skeletal muscle without cardiac or other organ involvement. The disease was characterised by unique pathological feature. Linkage was established to the Xq28 chromosomal region. Objective and methods : We report the clinical, radiological, pathological and the X chromosome haplotype study of a Turkish family. Results : The index case was a 28 year-old male patient suffering from fatigability and muscle weakness for seven months, with progressive worsening. His two brothers had the same clinical presentation with an onset at the same age. They all had healthy children, including boys. The three sisters were unaffected and had healthy children. There was no other affected individual in previous generations and there was no evidence for consanguinity. On examination, muscle weakness was predominant at the inferior limbs. On upper limbs, muscular involvement mainly consisted in scapulae alatae. He had no facial muscular weakness. Osteo-tendinous reflexes were present and the remaining of the neurological examination was normal. CPK dosage was moderately increased (612 UI/l). CT scan showed a symmetric muscle atrophy of the posterior regions of the four limbs more pronounced in the lower limbs (proximal and distal). ECG and cardiac echography were normal and the patient had no mental impairment. Muscle biopsy showed scattered atrophic fibres, with autophagic vacuoles in few fibres. There was an important interstitial endomysial and perimysial fibrosis. Electronic microscopy showed autophagic vacuoles. Immunolabellings and western blots showed no dystrophin, sarcoglycan and calpain deficiency. Haplotype analysis was consistent with the diagnosis of XMEA. Conclusions : we report an additional family with probable XMEA with late onset and predominance of the muscular involvement in the posterior muscle groups.
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