Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

Alias:
Mitochondrial Myopathy-Lactic Acidosis-Hearing Loss Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome, also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome, is related to mitochondrial myopathy with lactic acidosis. An important gene associated with Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome is PNPLA8 (Patatin Like Phospholipase Domain Containing 8). Affiliated tissues include skeletal muscle, and related phenotypes are sensorineural hearing impairment and myopathy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
1
4
3

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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