A SCAPULAR ONSET MUSCULAR-DYSTROPHY WITHOUT FACIAL INVOLVEMENT - POSSIBLE ALLELISM WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

Authors
JARDINE PE UPADHYAYA M MAYNARD J HARPER P LUNT PW
Citation
Pe. Jardine et al., A SCAPULAR ONSET MUSCULAR-DYSTROPHY WITHOUT FACIAL INVOLVEMENT - POSSIBLE ALLELISM WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 4(5-6), 1994, pp. 477-482
Citations number
24
Categorie Soggetti
Neurosciences,"Clinical Neurology
Journal title
Neuromuscular disorders → ACNP
ISSN journal
09608966
Volume
4
Issue
5-6
Year of publication
1994
Pages
477 - 482
Database
ISI
SICI code
0960-8966(1994)4:5-6<477:ASOMWF>2.0.ZU;2-3
Abstract
A dominantly inherited muscular dystrophy with onset in the shoulder g irdle and later progression to the lower limbs is described. The disor der was clinically distinguishable from known facioscapulohumeral, sca pulohumeral and limb girdle syndromes. A 38 kb allele detected by prob e p13E-11 (D4F104S1) segregated with the disease. Linkage analysis gav e a maximum lod score of z = 1.61 at theta = 0.01 with the 4q35 marker D4S184 (affected only analysis z = 1.20 at theta = 0.01) suggesting p robable allelism with facioscapulohumeral muscular dystrophy.