MYOPHOSPHORYLASE DEFICIENCY - AN UNUSUALLY SEVERE FORM WITH MYOGLOBINURIA

被引：14
作者：
KRISTJANSSON, K
TSUJINO, S
DIMAURO, S
机构：
[1] BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
[2] COLUMBIA UNIV, COLL PHYS & SURG, H HOUSTON MERRIT CLIN RES CTR MUSCULAR DYSTROPHY, NEW YORK, NY USA
来源：
JOURNAL OF PEDIATRICS | 1994年 / 125卷 / 03期
关键词：
D O I：
10.1016/S0022-3476(05)83287-1
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.
引用
收藏
页码：409 / 410
页数：2
相关论文
共 50 条
  • [1] FATAL INFANTILE FORM OF MYOPHOSPHORYLASE DEFICIENCY
    DIMAURO, S
    HARTLAGE, PL
    NEUROLOGY, 1978, 28 (04) : 364 - 364
  • [2] Myophosphorylase Deficiency
    Weksel, Justine K.
    Soloway, Stephen
    JCR-JOURNAL OF CLINICAL RHEUMATOLOGY, 2025, 31 (01) : e3 - e3
  • [3] MYOPHOSPHORYLASE DEFICIENCY AND FACIOSCAPULOHUMERAL DYSTROPHY
    RAO, KR
    PACT, V
    ROSES, AD
    ANNALS OF NEUROLOGY, 1983, 14 (01) : 125 - 125
  • [4] Phenotype modulators in myophosphorylase deficiency
    Martinuzzi, A
    Sartori, E
    Fanin, M
    Nascimbeni, A
    Valente, L
    Angelini, C
    Siciliano, G
    Mongini, T
    Tonin, P
    Tomelleri, G
    Toscano, A
    Merlini, L
    Bindoff, LA
    Bertelli, S
    ANNALS OF NEUROLOGY, 2003, 53 (04) : 497 - 502
  • [5] SEVERE DYSTONIA AND MYOGLOBINURIA
    JANKOVIC, J
    PENN, AS
    NEUROLOGY, 1982, 32 (10) : 1195 - 1197
  • [6] A FAMILIARY FORM OF PAROXYSMAL MYOGLOBINURIA
    HED, R
    NORDISK MEDICIN, 1947, 35 (30) : 1586 - 1588
  • [7] Myophosphorylase deficiency and calpainopathy in the same patient
    Pulur, N.
    Parman, Y.
    Deymeer, F.
    Serdaroglu-Oflazer, P.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 622 - 622
  • [8] MYOPHOSPHORYLASE DEFICIENCY - THE COURSE OF AN UNUSUAL CONGENITAL MYOPATHY
    ABARBANEL, JM
    POTASHNIK, R
    FRISHER, S
    MOSES, SW
    OSIMANI, A
    HERISHANU, Y
    NEUROLOGY, 1987, 37 (02) : 316 - 318
  • [9] Genetic test for myophosphorylase deficiency in Charolais cattle
    Bilstrom, JA
    Valberg, SJ
    Bernoco, D
    Mickelson, JR
    AMERICAN JOURNAL OF VETERINARY RESEARCH, 1998, 59 (03) : 267 - 270
  • [10] SEVERE INFANTILE FORM OF NEURAMINIDASE DEFICIENCY
    AYLSWORTH, AS
    THOMAS, GH
    HOOD, JL
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A68 - A68
12345