Mitochondrial 3243 A→G mutation (MELAS mutation) associated with painful muscle stiffness

The mitochondrial mutation A→G at nucleotide position 3243 is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myopath...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 1999-07, Vol.9 (5), p.305-307
Main Authors: Deschauer, M., Wieser, T., Neudecker, S., Lindner, A., Zierz, S.
Format: Article
Language:English
Subjects:
DNA, Mitochondrial - genetics
Humans
Male
MELAS
Middle Aged
Mitochondria, Muscle - genetics
Mitochondrial mutation
Muscle Weakness - complications
Muscle Weakness - genetics
Muscle Weakness - pathology
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscular Diseases - complications
Muscular Diseases - genetics
Muscular Diseases - pathology
Pain - etiology
Painful muscle stiffness
Point Mutation
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Summary:The mitochondrial mutation A→G at nucleotide position 3243 is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myopathy with painful muscle stiffness as the predominant symptom. Additionally hypacusis, a mild hemisensory syndrome and impaired glucose tolerance were present. Muscle histopathology showed few ragged red fibers. The mutation was detected heteroplasmatically in DNA from muscle and blood. So far painful muscle stiffness has not been a known phenotype of the 3243 mutation.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(99)00019-X