MITOCHONDRIAL MYOPATHIES
These result from defects in mitochondrial DNA. Clinical presentations vary greatly: muscle symptoms may include weakness, ophthalmoparesis, pain, or stiffness, or they may even be absent; age of onset ranges from infancy to adulthood; associated clinical presentations include ataxia, encephalopathy, seizures, stroke-like episodes, and recurrent vomiting. Three groups: CPEO; skeletal muscle–central nervous system syndromes; and pure myopathy syndromes simulating muscular dystrophy. The characteristic finding on muscle biopsy is “ragged red fibers,” which are muscle fibers with accumulations of abnormal mitochondria. Affected families often have a maternal pattern of inheritance because mitochondrial genes are inherited almost exclusively from the oocyte.
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Citation
Kasper, Dennis L., et al., editors. "MITOCHONDRIAL MYOPATHIES." Harrison's Manual of Medicine, 19th ed., McGraw Hill Inc., 2017. harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623490/all/MITOCHONDRIAL_MYOPATHIES.
MITOCHONDRIAL MYOPATHIES. In: Kasper DLD, Fauci ASA, Hauser SLS, et al, eds. Harrison's Manual of Medicine. McGraw Hill Inc.; 2017. https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623490/all/MITOCHONDRIAL_MYOPATHIES. Accessed September 14, 2024.
MITOCHONDRIAL MYOPATHIES. (2017). In Kasper, D. L., Fauci, A. S., Hauser, S. L., Longo, D. L., Jameson, J. L., & Loscalzo, J. (Eds.), Harrison's Manual of Medicine (19th ed.). McGraw Hill Inc.. https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623490/all/MITOCHONDRIAL_MYOPATHIES
MITOCHONDRIAL MYOPATHIES [Internet]. In: Kasper DLD, Fauci ASA, Hauser SLS, Longo DLD, Jameson JLJ, Loscalzo JJ, editors. Harrison's Manual of Medicine. McGraw Hill Inc.; 2017. [cited 2024 September 14]. Available from: https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623490/all/MITOCHONDRIAL_MYOPATHIES.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC
T1 - MITOCHONDRIAL MYOPATHIES
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ED - Jameson,J Larry,
ED - Loscalzo,Joseph,
ED - Kasper,Dennis L,
ED - Fauci,Anthony S,
ED - Hauser,Stephen L,
ED - Longo,Dan L,
BT - Harrison's Manual of Medicine
UR - https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623490/all/MITOCHONDRIAL_MYOPATHIES
PB - McGraw Hill Inc.
ET - 19
DB - Harrison's Manual of Medicine
DP - Unbound Medicine
ER -