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Results 1 - 3 of 3 for Spinal muscular "atrophy," "distal," autosomal "recessive," 1
  1. ... not show signs and symptoms of the condition. Autosomal recessive distal spinal muscular atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary motor ...
  2. ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. ...
  3. ... to muscles away from the body's center (distal). The muscle weakness usually worsens ... in an autosomal recessive pattern, which means both copies of the SMN1 ...