Disorders

Infantile Myopathy and Lactic Acidosis (Fatal and Non-Fatal Forms)

Gene	Locus	Protein
MT-TT	mitochondria

Laboratory	Test Method	Prenatal	Carrier *
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Targeted mutation analysis • Enzyme assay
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.