Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

A. L. Andreu; C. Bruno; S. Shanske; A. Shtilbans; M. Hirano; S. Krishna; L. Hayward; D. S. Systrom; R. H. Brown; Salvatore DiMauro

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

A. L. Andreu, C. Bruno, S. Shanske, A. Shtilbans, M. Hirano, S. Krishna, L. Hayward, D. S. Systrom, R. H. Brown, Salvatore DiMauro

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.

Original language	English
Pages (from-to)	1444-1447
Number of pages	4
Journal	Neurology
Volume	51
Issue number	5
Publication status	Published - Nov 1998

ASJC Scopus subject areas

Neuroscience(all)

Cite this

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title = "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy",

abstract = "A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.",

author = "Andreu, {A. L.} and C. Bruno and S. Shanske and A. Shtilbans and M. Hirano and S. Krishna and L. Hayward and Systrom, {D. S.} and Brown, {R. H.} and Salvatore DiMauro",

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T1 - Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

AU - Andreu, A. L.

AU - Bruno, C.

AU - Shanske, S.

AU - Shtilbans, A.

AU - Hirano, M.

AU - Krishna, S.

AU - Hayward, L.

AU - Systrom, D. S.

AU - Brown, R. H.

AU - DiMauro, Salvatore

PY - 1998/11

Y1 - 1998/11

N2 - A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.

AB - A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.

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JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

Abstract

ASJC Scopus subject areas

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