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Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain.

Abstract：

:We studied a 21-year-old patient with clinical, biochemical and histochemical evidence of myophosphorylase deficiency and unusual repetitive episodes of pigmenturia. His muscle biopsy also revealed morphological signs of mitochondrial proliferation and a defect of complex I of the respiratory chain. His mother had exercise intolerance without myoglobinuria and no histochemical evidence of myophosphorylase deficiency. In muscle, the mother showed some ragged-red fibers, normal respiratory chain levels and a significant residual phosphorylase activity. Molecular genetic analysis revealed that the proband was homozygous for the mutation commonly found in McArdle's disease. The mother, father, and the five siblings were all heterozygous for the same mutation. Mitochondrial DNA analysis of the proband's muscle failed to demonstrate known mutations associated with his clinical pattern. Moreover, we sequenced his tRNA(Leu(UUR)) gene, a hot spot for mutations, showing no abnormality.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Rubio JC,Martín MA,Bautista J,Campos Y,Segura D,Cabello A,Chinchón I,Arenas J

doi

10.1016/s0022-510x(98)00263-9

subject

Has Abstract

pub_date

1998-12-11 00:00:00

pages

110-3

issue

2

eissn

0022-510X

issn

1878-5883

pii

S0022510X98002639

journal_volume

161

pub_type

杂志文章

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