Literature DB >> 2036737

Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma.

W Reardon1, I K Temple, G Harwood, M Baraitser.   

Abstract

In an isolated male patient, differentiation between Facio-Scapulo-Humeral Muscular Dystrophy (FSH) and Becker Muscular Dystrophy (BMD) may be difficult. To emphasise this point, we report a patient, whose features are atypical of FSH. Details of his daughter who now manifests similar presenting features, are provided. The pitfalls posed for the genetic counsellor by FSH presenting in an atypical manner which clinically overlaps with genetically distinct conditions are discussed in the light of this pedigree.

Entities:  

Mesh:

Year:  1991        PMID: 2036737     DOI: 10.1111/j.1399-0004.1991.tb03007.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.

Authors:  K D Mathews; K A Mills; E P Bosch; V V Ionasescu; K R Wiles; K H Buetow; J C Murray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

2.  De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

Authors:  P E Jardine; M C Koch; P W Lunt; J Maynard; K D Bathke; P S Harper; M Upadhyaya
Journal:  Arch Dis Child       Date:  1994-09       Impact factor: 3.791

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.