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Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease. [PDF]

open access: yesJ Peripher Nerv Syst
Bjelica B   +8 more
europepmc   +1 more source

DIAPHRAGMATIC SPINAL MUSCULAR ATROPHY WITH BULBAR WEAKNESS

European Journal of Paediatric Neurology, 2000
We 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.
E, Mercuri   +4 more
openaire   +4 more sources

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