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Severe X-linked mitochondrial encephalomyopathy

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Name:
Severe X-linked mitochondrial encephalomyopathy
Description:
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
ORPHAcode:
238329
Synonyms:
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
AIFM1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14