Facioscapulohumeral muscular dystrophy with chromosome 9p deletion

被引：3

作者：

Ueyama, H

Kumamoto, T

Mita, S

Kimura, E

Nakagawa, M

Uchino, M

Ando, M

机构：

[1] KUMAMOTO UNIV,SCH MED,DEPT INTERNAL MED,KUMAMOTO 860,JAPAN

[2] KAGOSHIMA UNIV,FAC MED,DEPT INTERNAL MED 3,KAGOSHIMA 890,JAPAN

来源：

NEUROLOGY | 1996年 / 46卷 / 02期

关键词：

D O I：

10.1212/WNL.46.2.566

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a 31-year-old man with facioscapulohumeral muscular dystrophy who had congenital anomalies and mental retardation, Southern blot analysis, using the probe p13E-11, displayed an abnormal EcoRI DNA fragment that reflect DNA rearrangements in facioscapulohumeral muscular dystrophy. In addition, high-resolution cytogenetic study revealed an interstitial deletion of the short arm of chromosome 9: 46,XY, del(9)(p.22.1p24.1).

引用

页码：566 / 569

页数：4

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