Literature DB >> 655659

A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings.

R Fariello, K Meloff, E G Murphy, B J Reilly, D Armstrong.   

Abstract

A case of Schwartz-Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic features. No drug was effective in reducing our patient's stiffness.

Entities:  

Mesh：

Year:  1978        PMID： 655659     DOI： 10.1002/ana.410030115

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  3 in total

1.  Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Authors:  K A Brown; L I al-Gazali; L M Moynihan; N J Lench; A F Markham; R F Mueller
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Stimulation single fibre EMG study in a patient with Schwartz-Jampel syndrome.

Authors:  K Arimura; S Takenaga; M Nakagawa; M Osame; E Stalberg
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-10       Impact factor: 10.154

3.  Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Authors:  L I Al-Gazali; M Varghese; E Varady; J Al Talabani; J Scorer; D Bakalinova
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.