Coenzyme Q10 deficiency and isolated myopathy

被引：81

作者：

Horvath, R

Schneiderat, P

Schoser, BGH

Gempel, K

Neuen-Jacob, E

Plöger, H

Müller-Höcker, J

Pongratz, DE

Naini, A

DiMauro, S

Lochmüller, H

机构：

[1] Univ Munich, Dept Neurol, Friedrich Baur Inst, D-81377 Munich, Germany

[2] Univ Munich, Dept Pathol, D-81377 Munich, Germany

[3] Acad Hosp Schwabing, Metab Dis Ctr, Munich, Germany

[4] Acad Hosp Schwabing, Inst Clin Chem, Munich, Germany

[5] Acad Hosp Schwabing, Inst Mol Diagnost & Mitochondrial Genet, Munich, Germany

[6] Univ Dusseldorf, Inst Neuropathol, Dusseldorf, Germany

[7] Hosp Herford, Dept Neurol, Hereford, England

[8] Columbia Univ, Ctr Med, New York, NY USA

来源：

NEUROLOGY | 2006年 / 66卷 / 02期

关键词：

D O I：

10.1212/01.wnl.0000194241.35115.7c

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures. Muscle biopsy showed lipid storage myopathy, combined deficiency of respiratory chain complexes I and III, and CoQ10 levels below 50% of normal. Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK.

引用

页码：253 / 255

页数：3

共 10 条

[1] Progression despite replacement of a myopathic form of coenzyme Q10 defect [J].

Auré, K ;

Benoist, JF ;

de Baulny, HO ;

Romero, NB ;

Rigal, O ;

Lombès, A .

NEUROLOGY, 2004, 63 (04) :727-729

[2] Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency [J].

Di Giovanni, S ;

Mirabella, M ;

Spinazzola, A ;

Crociani, P ;

Silvestri, G ;

Broccolini, A ;

Tonali, P ;

Di Mauro, S ;

Servidei, S .

NEUROLOGY, 2001, 57 (03) :515-518

[3] A MITOCHONDRIAL ENCEPHALOMYOPATHY - THE 1ST CASE WITH AN ESTABLISHED DEFECT AT THE LEVEL OF COENZYME-Q [J].

FISCHER, JC ;

RUITENBEEK, W ;

GABREELS, FJM ;

JANSSEN, AJM ;

RENIER, WO ;

SENGERS, RCA ;

STADHOUDERS, AM ;

TERLAAK, HJ ;

TRIJBELS, JMF ;

VEERKAMP, JH .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) :441-444

[4] Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency [J].

Gironi, M ;

Lamperti, C ;

Nemni, R ;

Moggio, M ;

Comi, G ;

Guerini, FR ;

Ferrante, P ;

Canal, N ;

Naini, A ;

Bresolin, N ;

DiMauro, S .

NEUROLOGY, 2004, 62 (05) :818-820

[5] Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency [J].

Lalani, SR ;

Vladutiu, GD ;

Plunkett, K ;

Lotze, TE ;

Adesina, AM ;

Scaglia, F .

ARCHIVES OF NEUROLOGY, 2005, 62 (02) :317-320

[6] Cerebellar ataxia and coenzyme Q10 deficiency [J].

Lamperti, C ;

Naini, A ;

Hirano, M ;

De Vivo, DC ;

Bertini, E ;

Servidei, S ;

Valeriani, M ;

Lynch, D ;

Banwell, B ;

Berg, M ;

Dubrovsky, T ;

Chiriboga, C ;

Angelini, C ;

Pegoraro, E ;

DiMauro, S .

NEUROLOGY, 2003, 60 (07) :1206-1208

[7] MUSCLE COENZYME-Q DEFICIENCY IN FAMILIAL MITOCHONDRIAL ENCEPHALOMYOPATHY [J].

OGASAHARA, S ;

ENGEL, AG ;

FRENS, D ;

MACK, D .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (07) :2379-2382

[8] Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency [J].

Rötig, A ;

Appelkvist, EL ;

Geromel, V ;

Chretien, D ;

Kadhom, N ;

Edery, P ;

Lebideau, M ;

Dallner, G ;

Munnich, A ;

Ernster, L ;

Rustin, P .

LANCET, 2000, 356 (9227) :391-395

[9] Mitochondrial encephalomyopathy with coenzyme Q(10) deficiency [J].

Sobreira, C ;

Hirano, M ;

Shanske, S ;

Keller, RK ;

Haller, RG ;

Davidson, E ;

Santorelli, FM ;

Miranda, AF ;

Bonilla, E ;

Mojon, DS ;

Barreira, AA ;

King, MP ;

DiMauro, S .

NEUROLOGY, 1997, 48 (05) :1238-1243

[10] Coenzyme Q- responsive Leigh's encephalopathy in two sisters [J].

Van Maldergem, L ;

Trijbels, F ;

DiMauro, S ;

Sindelar, PJ ;

Musumeci, O ;

Janssen, A ;

Delberghe, X ;

Martin, JJ ;

Gillerot, Y .

ANNALS OF NEUROLOGY, 2002, 52 (06) :750-754

← 1 →