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AD Alzheimer's Disease
ADPD Alzheimer's Disease and Parkinsons's Disease
AMDF Ataxia, Myoclonus and Deafness
CIPO Chronic Intestinal Pseudoobstruction with myopathy and
Ophthalmoplegia
CPEO Chronic Progressive External Ophthalmoplegia
DEAF Maternally inherited DEAFness or
aminoglycoside-induced DEAFness
DEMCHO Dementia and Chorea
DMDF Diabetes Mellitus & DeaFness
ESOC Epilepsy, Strokes, Optic atrophy, & Cognitive decline
EXIT
Exercise Intolerance
FBSN Familial Bilateral Striatal Necrosis
FICP Fatal Infantile Cardiomyopathy Plus, a MELAS-associated
cardiomyopathy
FSGS Focal Segmental Glomerulosclerosis
GER Gastrointestinal Reflux
KSS Kearns Sayre Syndrome
LDYT Leber's hereditary optic neuropathy and DYsTonia
LHON Leber Hereditary Optic Neuropathy
LIMM Lethal Infantile Mitochondrial Myopathy
Longevity
MDM Myopathy and Diabetes Mellitus
MELAS Mitochondrial Encephalomyopathy, Lactic Acidosis, and
Stroke-like episodes
MEPR Myoclonic Epilepsy and Psychomotor Regression
MERME MERRF/MELAS overlap disease
MERRF Myoclonic Epilepsy and Ragged Red Muscle Fibers
MHCM Maternally Inherited Hypertrophic CardioMyopathy
MICM Maternally Inherited Cardiomyopathy
MILS Maternally Inherited Leigh Syndrome
Mitochondrial Encephalocardiomyopathy
Mitochondrial Encephalomyopathy
MM Mitochondrial Myopathy
MMC Maternal Myopathy and Cardiomyopathy
Multisystem Mitochondrial Disorder (myopathy, encephalopathy,
blindness, hearing loss, peripheral neuropathy)
NAION Nonarteritic Anterior Ischemic Optic Neuropathy
NARP Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa;
alternate phenotype at this locus is reported as
Leigh Disease
NIDDM Non-Insulin Dependent Diabetes Mellitus
OAT
Oligoasthenoteratozoospermia
PEG Pseudoexfoliation Glaucoma
PEM Progressive Encephalopathy
PME Progressive Myoclonus Epilepsy
POAG Primary Open Angle Glaucoma
RTT Rett Syndrome
SIDS Sudden Infant Death Syndrome
SNHL Sensorineural Hearing Loss
Varied Familial
Presentation: clinical manifestations range from
spastic paraparesis to multisystem progressive disorder & fatal cardiomyopathy
to truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis,
ophthalmoparesis, distal cyclones, & diabetes mellitus