BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCE - REPORT ON 3 PEDIGREES

被引:156
|
作者
BETHLEM, J [1 ]
VANWIJNGAARDEN, GK [1 ]
机构
[1] UNIV AMSTERDAM WILHELMINA GASTHUIS,CTR MUSCLE RES,DEPT NEUROL,AMSTERDAM,NETHERLANDS
关键词
D O I
10.1093/brain/99.1.91
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:91 / 100
页数:10
相关论文
共 50 条
  • [31] AUTOSOMAL DOMINANT SPHEROID BODY MYOPATHY
    GOEBEL, HH
    MULLER, J
    GILLEN, HW
    MERRITT, AD
    MUSCLE & NERVE, 1978, 1 (01) : 14 - 26
  • [32] AUTOSOMAL DOMINANT CYTOPLASMIC BODY MYOPATHY
    DICKOFF, DJ
    HAYS, AP
    UNCINI, A
    DIMAURO, S
    LOVELACE, RE
    ROWLAND, LP
    ANNALS OF NEUROLOGY, 1987, 22 (01) : 125 - 125
  • [33] A family with E3δ40 mutations in the Parkin gene:: evidence for autosomal recessive inheritance of young onset benign parkinsonism rather than autosomal dominant inheritance
    Sa, DS
    Munhoz, RP
    Rogaeva, E
    Hyslop, PS
    Farrer, MJ
    Lang, AE
    MOVEMENT DISORDERS, 2002, 17 : S30 - S30
  • [34] Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance
    Guerrini, R
    Belmonte, A
    Carrozzo, R
    BRAIN & DEVELOPMENT, 1998, 20 (02): : 116 - 118
  • [35] HEREDITARY PARKINSONS-DISEASE - REPORT ON 3 FAMILIES WITH AUTOSOMAL-DOMINANT INHERITANCE PATTERN
    WSZOLEK, ZK
    CORDES, M
    CALNE, DB
    MUNTER, MD
    CORDES, I
    PFEIFER, RF
    NERVENARZT, 1993, 64 (05): : 331 - 335
  • [36] Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance
    Kulkarni, Ketan
    Desai, Sunil
    Grundy, Paul
    Sergi, Consolato
    JOURNAL OF PEDIATRIC SURGERY, 2012, 47 (12) : 2312 - 2315
  • [37] Parkin gene mutation with an autosomal dominant inheritance - A family case report
    Drobnis, A.
    Scala, S. A.
    Zani, J. W.
    Apetauerova, D.
    MOVEMENT DISORDERS, 2012, 27 : S454 - S454
  • [38] Setleis syndrome: Autosomal recessive or autosomal dominant inheritance
    AlGazali, LI
    AlTalabani, J
    CLINICAL DYSMORPHOLOGY, 1996, 5 (03) : 249 - 253
  • [39] SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL DOMINANT INHERITANCE - REPORT OF A NEW KINDRED
    ZELLWEGER, H
    MCCORMICK, WF
    IONASESCU, V
    NEUROLOGY, 1972, 22 (09) : 957 - +
  • [40] RENAL TUBULAR ACIDOSIS - REPORT OF A FAMILY WITH A DOMINANT AUTOSOMAL INHERITANCE PATTERN
    GYORY, AZ
    EDWARDS, KDG
    AUSTRALASIAN ANNALS OF MEDICINE, 1967, 16 (02): : 190 - &