HEREDITARY MOTOR-SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE) WITH NERVE DEAFNESS - A NEW VARIANT

被引：13

作者：

HAMIEL, OP

RAASROTHSCHILD, A

UPADHYAYA, M

FRYDMAN, M

SAROVAPINHAS, I

BRAND, N

PASSWELL, JH

机构：

[1] CHAIM SHEBA MED CTR, DEPT PEDIAT, IL-52621 TEL HASHOMER, ISRAEL

[2] E WOLFSON HOSP, DEPT NEUROL, HOLON, ISRAEL

[3] CHAIM SHEBA MED CTR, DEPT PEDIAT & GENET, IL-52621 TEL HASHOMER, ISRAEL

[4] UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

[5] SACKLER SCH MED, TEL AVIV, ISRAEL

来源：

JOURNAL OF PEDIATRICS | 1993年 / 123卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(05)81752-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Hereditary motor-sensory neuropathy with sensorineural deafness is described in a family; the neurologic features and deafness were apparent in early childhood and infancy. The clinical syndrome in the family was not closely linked to the Duffy blood group, nor was duplication demonstrated at the disease-associated locus 17 p11.2. This family may represent a different form of this heterogeneous disease.

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页码：431 / 434

页数：4

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