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

被引：23

作者：

JARDINE, PE ^{[1
]}

UPADHYAYA, M ^{[1
]}

MAYNARD, J ^{[1
]}

HARPER, P ^{[1
]}

LUNT, PW ^{[1
]}

机构：

[1] UNIV COLL N WALES,INST MED GENET,CARDIFF,S GLAM,WALES

来源：

NEUROMUSCULAR DISORDERS | 1994年 / 4卷 / 5-6期

关键词：

SCAPULAR ONSET MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; SCAPULOPERONEAL MUSCULAR DYSTROPHY; SCAPULOHUMERAL MUSCULAR DYSTROPHY;

D O I：

10.1016/0960-8966(94)90087-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A dominantly inherited muscular dystrophy with onset in the shoulder girdle and later progression to the lower limbs is described. The disorder was clinically distinguishable from known facioscapulohumeral, scapulohumeral and limb girdle syndromes. A 38 kb allele detected by probe p13E-11 (D4F104S1) segregated with the disease. Linkage analysis gave 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 probable allelism with facioscapulohumeral muscular dystrophy.

引用

页码：477 / 482

页数：6

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