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

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
DOI:	10.1016/s0960-8966(99)00019-x
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66ded707c55f6e96994111b14176d64 https://doi.org/10.1016/s0960-8966(99)00019-x
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....e66ded707c55f6e96994111b14176d64
Autor:	Stephan Neudecker, Marcus Deschauer, Stephan Zierz, Thomas Wieser, A. Lindner
Rok vydání:	1999
Předmět:	Male medicine.medical_specialty Pain Mitochondrion Biology DNA Mitochondrial Muscular Diseases Mitochondrial myopathy Internal medicine medicine Humans Point Mutation Muscle Skeletal Myopathy Genetics (clinical) Mitochondrial Encephalomyopathies Genetics Muscle Weakness Point mutation Middle Aged Muscle stiffness medicine.disease Mitochondria Muscle Endocrinology Neurology Lactic acidosis Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Neurology (clinical) medicine.symptom
Zdroj:	Neuromuscular Disorders. 9:305-307
ISSN:	0960-8966
DOI:	10.1016/s0960-8966(99)00019-x
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66ded707c55f6e96994111b14176d64 https://doi.org/10.1016/s0960-8966(99)00019-x Zobrazit plný text záznamu Full Text from ScienceDirect