Version: 8.0.0
Date: Tue Jan 28 2025
myofibrillar myopathy 8
DOID:0080308
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

myofibrillar myopathy 8

Definition
A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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