Table 3. [Selected Allelic Disorders]. - GeneReviews®

Gene	Phenotype
MT-TF	MELAS
MT-TH	MELAS Cardiomyopathy (OMIM 590040) Pigmentary retinopathy (OMIM 590040) Deafness
MT-TI	Mitochondrial DNA-associated Leigh syndrome Neonatal weakness, lactic acidosis, hypoglycemia, cardiopulmonary arrest, & early fatality in one individual ¹
MT-TK	Multiple symmetric lipomatosis [Perera et al 2018] MELAS MERRF/MELAS overlap ^2, 3 (See also Differential Diagnosis.) Mitochondrial DNA-associated Leigh syndrome
MT-TL1	Cardiomyopathy (OMIM 590050) Maternally inherited diabetes mellitus w/ or w/o deafness (OMIM 590050) MERRF/MELAS overlap (See also Differential Diagnosis.) MELAS MERRF/Kearns-Sayre syndrome (See Mitochondrial DNA Deletion Syndromes.) ^3, 4 Mitochondrial nonsyndromic hearing loss and deafness Progressive external ophthalmoplegia (See Mitochondrial DNA Deletion Syndromes.)
MT-TS1	MELAS Mitochondrial nonsyndromic hearing impairment
MT-TS2	MELAS Cerebellar ataxia, cataract, and diabetes mellitus (OMIM 590085)

Gene

Phenotype

MT-TF

MELAS

MT-TH

MELAS
Cardiomyopathy (OMIM 590040)
Pigmentary retinopathy (OMIM 590040)
Deafness

MT-TI

Mitochondrial DNA-associated Leigh syndrome
Neonatal weakness, lactic acidosis, hypoglycemia, cardiopulmonary arrest, & early fatality in one individual ¹

MT-TK

Multiple symmetric lipomatosis [Perera et al 2018]
MELAS
MERRF/MELAS overlap ^2, 3 (See also Differential Diagnosis.)
Mitochondrial DNA-associated Leigh syndrome

MT-TL1

Cardiomyopathy (OMIM 590050)
Maternally inherited diabetes mellitus w/ or w/o deafness (OMIM 590050)
MERRF/MELAS overlap (See also Differential Diagnosis.)
MELAS
MERRF/Kearns-Sayre syndrome (See Mitochondrial DNA Deletion Syndromes.) ^3, 4
Mitochondrial nonsyndromic hearing loss and deafness
Progressive external ophthalmoplegia (See Mitochondrial DNA Deletion Syndromes.)

MT-TS1

MT-TS2

MELAS
Cerebellar ataxia, cataract, and diabetes mellitus (OMIM 590085)

From: MERRF

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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