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Details of RareLED ID 2006

Primary information
ID	2006
Disorder	POMPE DISEASE
Inheritance	Autosomal recessive
Organ Affected	Lungs, Ear, Bones, Nervous System
Onset	Early
Genotype-Phenotype Correlation	DD genotype in the ACE gene and the XX genotype in the ACTN3 gene were significantly associated to an earlier age of onset of the disease. The ACE DD genotype was also associated to the presence of muscle pain.c.1927G?>?A, produce a small amount of protein, non sense mutation as c.525delT CRIM negative both result in a earlier presentation of the disease.
Refrences	25103075