| Metadata | |
|---|---|
| ID | DOID:0080308 | 
| Name | 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.  https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy  | 
			    
                        
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| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has symptom some progressive weakness has material basis in some autosomal recessive inheritance has symptom some muscle weakness  |