肢带型肌营养不良症：临床表现及临床前期疾病的检测 - Suppr

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Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.

作者信息

Jackson C E, Strehler D A

出版信息

Pediatrics. 1968 Feb;41(2):495-502.

PMID:5637795

Abstract

摘要

相似文献

Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.肢带型肌营养不良症：临床表现及临床前期疾病的检测

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Limb-girdle musclar dystrophy: its larger significance.

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Carrier detection in X-linked muscular dystrophy.X连锁型肌营养不良的携带者检测

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The incidence of lobulated fibres in the facioscapulo-humeral type of muscular dystrophy and the limb-girdle syndrome.面肩肱型肌营养不良和肢带综合征中结节状纤维的发生率。

J Neurol Sci. 1973 Mar;18(3):351-8. doi: 10.1016/0022-510x(73)90083-x.

[Muscle LDH isoenzymes in neuromuscular diseases and in carriers of recessive X-linked muscular dystrophy (duchenne)].[神经肌肉疾病及隐性X连锁肌营养不良（杜兴氏）携带者中的肌肉乳酸脱氢酶同工酶]

Z Kinderheilkd. 1972;113(1):55-70.

Limb-girdle muscular dystrophies: an overview.

J Child Neurol. 1999 Jan;14(1):31-3.

[Biochemical, histological and clinical findings in carriers of Duchenne-type progressive muscular dystrophy].[杜兴氏型进行性肌营养不良携带者的生化、组织学和临床发现]

Schweiz Med Wochenschr. 1971 Apr 17;101(15):537-42.

Limb-girdle muscular dystrophy.

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The detection of female carriers of pseudohypertrophic muscular dystrophy.假肥大型肌营养不良女性携带者的检测

Proc Aust Assoc Neurol. 1968;5(3):545-51.

引用本文的文献

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.肌联蛋白通过重塑营养不良小鼠的肌聚糖复合物组成来预防LGMD R5。

J Clin Invest. 2025 Jun 19;135(17). doi: 10.1172/JCI187868. eCollection 2025 Sep 2.

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.7号染色体上一个新的常染色体显性肢带型肌营养不良症基因座的鉴定。

Am J Hum Genet. 1999 Feb;64(2):556-62. doi: 10.1086/302252.

DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.阿米什人中2A型肢带型肌营养不良症的DNA研究排除了修饰性线粒体基因，且未显示存在修饰性核基因的证据。

Am J Hum Genet. 1997 Jul;61(1):231-3. doi: 10.1016/S0002-9297(07)64296-7.

Limb girdle muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus.肢带型肌营养不良症：一项关于咽和食管的放射学及测压研究

Dysphagia. 1996 Winter;11(1):25-9. doi: 10.1007/BF00385796.

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.常染色体显性遗传性肢带型肌营养不良中基因座异质性的证据。

Am J Hum Genet. 1995 Dec;57(6):1371-6.

Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.2A型肢带型肌营养不良症基因在15q15.1 - q15.3区间1厘摩近端部分的优先定位。

Am J Hum Genet. 1995 Jun;56(6):1417-30.

Consanguinity and blood group distribution in an Amish Isolate.阿米什人隔离群体中的近亲关系与血型分布

Am J Hum Genet. 1968 Nov;20(6):522-7.

Fortuitous detection of a sporadic carrier of Duchenne's muscular dystrophy.偶然发现一名杜氏肌营养不良症的散发携带者。

Humangenetik. 1968;6(1):34-9. doi: 10.1007/BF00287152.

Amish albinism: a distinctive autosomal recessive phenotype.阿米什白化病：一种独特的常染色体隐性表型。

Am J Hum Genet. 1970 Sep;22(5):579-86.

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.患有早发性进行性肌营养不良的兄弟姐妹对：分子研究揭示病因异质性。

Am J Hum Genet. 1989 Jul;45(1):63-72.

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