Mitochondrial encephalomyopathy

Mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy
Classification and external resources
ICD-9 277.87
MeSH D017237

A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial disease.

Examples include MELAS and MERRF. These conditions can sometimes present together.[1][2]

KSS is sometimes included in this category,[3] but it is not included in this category in MeSH.

References

  1. ^ Melone MA, Tessa A, Petrini S, et al (February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): 269–72. doi:10.1001/archneur.61.2.269. PMID 14967777. http://archneur.ama-assn.org/cgi/pmidlookup?view=long&pmid=14967777. 
  2. ^ Naini AB, Lu J, Kaufmann P, et al (March 2005). "Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF". Arch. Neurol. 62 (3): 473–6. doi:10.1001/archneur.62.3.473. PMID 15767514. http://archneur.ama-assn.org/cgi/pmidlookup?view=long&pmid=15767514. 
  3. ^ Crimmins D, Morris JG, Walker GL, et al (August 1993). "Mitochondrial encephalomyopathy: variable clinical expression within a single kindred". J. Neurol. Neurosurg. Psychiatr. 56 (8): 900–5. doi:10.1136/jnnp.56.8.900. PMC 1015147. PMID 8350109. http://jnnp.bmj.com/cgi/pmidlookup?view=long&pmid=8350109. 
v · d · eNon-Mendelian inheritance: Mitochondrial diseases (277.87)
Carbohydrate metabolism
PCD · PDHA
Primarily nervous system
LHON · NARP · Leigh's
Myopathies
Mitochondrial encephalomyopathy (MELAS, MERRF) · KSS · PEO
No primary system
Chromosomal
TIMM8A (Mohr-Tranebjaerg syndrome) · OPA1 (Kjer's optic neuropathy)
see also mitochondrial proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk



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