Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase

被引：13

作者：

Gospe, SM

El-Schahawi, M

Shanske, S

Bruno, C

DiMauro, S

Hoye, E

Walsh, DA

Gorin, FA

机构：

[1] Univ Calif Davis, Dept Neurol, Davis, CA USA

[2] Univ Calif Davis, Dept Pediat, Davis, CA USA

[3] Univ Calif Davis, Dept Biol Chem, Davis, CA USA

[4] Columbia Presbyterian Med Ctr, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA

来源：

NEUROLOGY | 1998年 / 51卷 / 04期

关键词：

D O I：

10.1212/WNL.51.4.1228

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1228 / 1229

页数：2

共 7 条

[1] Idiopathic hyperCKemia revisited [J].

Afifi, AK .

JOURNAL OF CHILD NEUROLOGY, 1998, 13 (06) :251-252

[2] MCARDLES DISEASE HETEROZYGOTES - METABOLIC ADAPTATION ASSESSED USING P-31-NUCLEAR MAGNETIC-RESONANCE [J].

BOGUSKY, RT ;

TAYLOR, RG ;

ANDERSON, LJ ;

ANGELOS, KL ;

LIEBERMAN, JS ;

WALSH, DA .

JOURNAL OF CLINICAL INVESTIGATION, 1986, 77 (06) :1881-1887

[3]

DIMAURO S, 1986, MYOLOGY, V2, P1585

[4] RADIOACTIVE METHOD FOR ASSAY OF GLYCOGEN PHOSPHORYLASES [J].

GILBOE, DP ;

NUTTALL, FQ ;

LARSON, KL .

ANALYTICAL BIOCHEMISTRY, 1972, 47 (01) :20-&

[5] Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy [J].

Martinuzzi, A ;

Tsujino, S ;

Vergani, L ;

Schievano, G ;

Cadaldini, M ;

Bartoloni, L ;

Fanin, M ;

Siciliano, G ;

Shanske, S ;

DiMauro, S ;

Angelini, C .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1996, 137 (01) :14-19

[6] 2 NOVEL MISSENSE MUTATIONS (E654K, L396P) IN CAUCASIAN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE) [J].

TSUJINO, S ;

SHANSKE, S ;

MARTINUZZI, A ;

HEIMANPATTERSON, T ;

DIMAURO, S .

HUMAN MUTATION, 1995, 6 (03) :276-277

[7] MOLECULAR-GENETIC HETEROGENEITY OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE) [J].

TSUJINO, S ;

SHANSKE, S ;

DIMAURO, S .

NEW ENGLAND JOURNAL OF MEDICINE, 1993, 329 (04) :241-245

← 1 →