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Spinal muscular "atrophy," "distal," autosomal "recessive," 1
- ... not show signs and symptoms of the condition. Autosomal recessive distal spinal muscular atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary motor ...
- ... 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. ...
- ... 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 ...