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Human Disease and Mouse Model Detail
Human Disease

Term: Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED
OMIM ID: 158600

Synonyms Kugelberg-Welander Syndrome, Autosomal Dominant; Sma-Led; Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant; Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Dync1h1 DYNC1H1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory