Literature DB >> 3736585

Facioscapulohumeral muscular dystrophy: the choice of a biopsy site.

J B Bodensteiner, S S Schochet.   

Abstract

The utilization of so-called standard muscles for biopsy in patients with the clinical features of facioscapulohumeral muscular dystrophy (FSH) often results in nondiagnostic pathologic findings. Five patients are presented who had biopsies of the supraspinatus muscle in addition to one of the standard muscles. The supraspinatus muscle was diagnostic in all five cases. The findings suggest that the supraspinatus muscle should be considered as the biopsy site of first choice in those patients in whom the clinical picture suggests facioscapulohumeral-type muscular dystrophy.

Entities:  

Mesh:

Substances:

Year:  1986        PMID: 3736585     DOI: 10.1002/mus.880090611

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  1 in total

1.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.