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  • Title: Progressive peroneal muscular atrophy (Charcot-Marie-Tooth disease) associated with beta-thalassemia trait and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. A clinical and nerve biopsy case.
    Author: Inzitari D, Rizzuto N, Antuono P, Sità D.
    Journal: Ital J Neurol Sci; 1981 Aug; 2(3):269-74. PubMed ID: 7341549.
    Abstract:
    The case of a 22 year old woman presenting progressive peroneal muscular atrophy (PMA) is described. Electrophysiological and pathological studies demonstrated features of hereditary motor and sensory neuropathy -HMSN- type I. Laboratory findings showed two erythrocytic defects: beta-thalassemia trait and a glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Unlike the past, these inherited disorders are associated with PMA.
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