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  • Title: Autosomal recessive limb girdle myasthenia in two sisters.
    Author: Shankar A, Solomon T, Joseph TP, Gnanamuthu C.
    Journal: Neurol India; 2002 Dec; 50(4):500-3. PubMed ID: 12577107.
    Abstract:
    Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sisters affected by this disorder is presented.
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