Contribution of immunological and genetic investigations to improve classification of patients...

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[PDF][PDF] LGMD2D syndrome: The importance of clinical and molecular genetics in patient and family management

KM Al-Harbi, AM Abdallah - Neuroendocrinology Letters, 2016 - nel.edu
We report the case of a seven-year-old female from a consanguineous Saudi family with
autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused …
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