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A 4 month old male infant with Werdnig Hoffmann disease was Presented. The infant was relatively healthy until 3 months of his age, when hypotonia, muscle weakness with flaccid paralysis were noted by his mother. Physical examination revealed hypotonia and weak crying with frog leg position. Fasciculations of tongue and high arched palate were found. Biopsy from right quadriceps muscle... |
