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DIAPHRAGMATIC SPINAL MUSCULAR ATROPHY WITH BULBAR WEAKNESS
European Journal of Paediatric Neurology, 2000We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life.
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