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| MUTATIONS IN THE DYSTROPHIN-ASSOCIATED PROTEIN GAMMA-SARCOGLYCAN IN CHROMOSOME-13 MUSCULAR-DYSTROPHY |
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| Author(s): NOGUCHI S, MCNALLY EM, BENOTHMANE K, HAGIWARA Y, MIZUNO Y, YOSHIDA M, YAMAMOTO H, BONNEMANN CG, GUSSONI E, DENTON PH, KYRIAKIDES T, MIDDLETON L, HENTATI F, BENHAMIDA M, NONAKA I, VANCE JM, KUNKEL LM, OZAWA E |
| Source: SCIENCE Volume: 270 Issue: 5237 Pages: 819-822 Published: NOV 3 1995 |
| Times Cited: 358 References: 35 |
| Abstract: Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, gamma-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human gamma-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect gamma-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex. |
| Document Type: Article |
| Language: English |
| Reprint Address: NOGUCHI, S (reprint author), NATL CTR NEUROL & PSYCHIAT, NATL INST NEUROSCI, 4-1-1 OGAWA HIGASHI CHO, KODAIRA, TOKYO 187 JAPAN |
Addresses:
1. CHILDRENS HOSP, DIV GENET, BOSTON, MA 02155 USA
2. CHILDRENS HOSP, HOWARD HUGHES MED INST, BOSTON, MA 02155 USA
3. DUKE UNIV, MED CTR, DEPT MED, DIV NEUROL, DURHAM, NC 27710 USA
4. CYPRUS INST NEUROL & GENET, NICOSIA, CYPRUS
5. INST NEUROL, TUNIS, TUNISIA |
| Publisher: AMER ASSOC ADVAN SCIENCE, 1333 H ST NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: TC712 |
| ISSN: 0036-8075 |
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