Mitochondrial myopathy

Mitochondrial myopathy
Mitochondrial myopathy
Classification and external resources

Simplified structure of a typical mitochondrion
ICD-10 G71.3
MeSH D017240

Mitochondrial myopathies are a type of myopathy associated with mitochondrial disease. On biopsy, the muscle tissue of patients with this disease category usually demonstrate 'ragged red' muscle fibers. These 'ragged red' fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased activity for cytochrome c oxidase. Inheritance is maternal (non-Mendelian extranuclear). There are several subcategories of mitochondrial myopathies.

Treatment

Although no cure currently exists, there is some hope for a treatment for this whole class of hereditary diseases with the use of an embryotic mitochondrial transplant.[1]

Variations of the Disease

Symptoms of Mitochondrial myopathy include:

  • Myoclonic epilepsy and ragged-red fibers (MERRF)
    • progressive myoclonic epilepsy
    • clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gömöri trichrome stain
    • short stature

References

  1. ^ "Three-parent embryo formed in lab" (web). Scientists believe they have made a potential breakthrough in the treatment of serious disease by creating a human embryo with three separate parents.. BBC News. 5 February 2008. http://news.bbc.co.uk/2/hi/health/7227861.stm. Retrieved 2008-02-08. 
v · d · eDiseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
Neuromuscular-
junction disease
autoimmune (Myasthenia gravis, Lambert–Eaton myasthenic syndrome)
Myopathy/
congenital myopathy
AD
AR
Other structural
Hypokalemic (Thyrotoxic) · Hyperkalemic
Other
Mitochondrial myopathy
MELAS · MERRF · KSS · PEO
Other

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)
v · d · eNon-Mendelian inheritance: Mitochondrial diseases (277.87)
Carbohydrate metabolism
PCD · PDHA
Primarily nervous system
LHON · NARP · Leigh's
Myopathies
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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