摘要:

AbstractWe report a 4‐year‐6‐month‐old boy with congenital myopathy without specific features. He showed delayed motor milestones, gaining head control at four months, and walking without support at one year six months. He was not a floppy infant after birth. Physical examination disclosed a myopathic face and muscle atrophy, predominantly in the proximal muscles, particularly in the scapular and pelvic girdles. A proximal muscle biopsy showed a mild variation in fiber size without any specific structural abnormality. Fiber type analysis showed type 2B fiber smallness. We compare our case with previously reported cases of minimal change myopathy (congenital myopathy without specific fe

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00345.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractA four‐year‐old female with hemolytic uremic syndrome (HUS) had reduced plasma prostaglandin I2regenerating activity (PGI2‐RA). The patient had a cholecystectomy with T‐tube drainage of the common bile duct, because she developed common bile duct obstruction due to cholelithiasis. This is the first report of this syndrome in which there was associated common bile duct obstruction due to choleli

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00346.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractA male infant with the infantile type of glycerol kinase deficiency is described. At six years of age, he showed proximal dominant muscle atrophy and weakness, addisonian pigmentation and mental retardation. Laboratory investigations revealed muscular dystrophy, adrenal insufficiency and glycerol kinase deficiency. He has a small deletion in a band (Xp21) of the X chromosome. The clinical, biochemical and genetic findings in this patient are reported.

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00347.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00348.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00349.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00350.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb00351.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY