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Cytogenetic analysis and muscle differentiation in a girl with severe muscular dystrophy.

作者信息

Meola G, Scarpini E, Velicogna M, Scarlato G, Larizza L, Conti A F

出版信息

J Neurol. 1986 Jun;233(3):168-70. doi: 10.1007/BF00314426.

DOI:10.1007/BF00314426
PMID:3723154
Abstract

The uncommon case is described of a girl severely affected with Duchenne muscular dystrophy. Cytogenetic analysis revealed no numerical or structural abnormalities of the X-chromosome in any of the cells examined (leucocytes and myoblasts). No abnormality in morphology, growth pattern or differentiation was observed in the dystrophic muscle cultures as compared with control cultures.

摘要

相似文献

1
Cytogenetic analysis and muscle differentiation in a girl with severe muscular dystrophy.
J Neurol. 1986 Jun;233(3):168-70. doi: 10.1007/BF00314426.
2
Duchenne muscular dystrophy in a girl identified by dystrophin deficiency.一名因肌营养不良蛋白缺乏而确诊的女孩患有杜氏肌营养不良症。
Neuropediatrics. 1991 Aug;22(3):163-5. doi: 10.1055/s-2008-1071435.
3
Clinical features in a girl with Duchenne muscular dystrophy with an X-autosome translocation; (X;4)(p21;q26).一名患有杜氏肌营养不良症且伴有X-常染色体易位（X;4）（p21;q26）的女孩的临床特征
Brain Dev. 1986;8(6):619-23. doi: 10.1016/s0387-7604(86)80010-9.
4
High-resolution banding study of an X/4 translocation in a female with Duchenne muscular dystrophy.对一名患有杜氏肌营养不良症的女性的X/4易位进行的高分辨率显带研究。
Hum Genet. 1985;71(4):370-1. doi: 10.1007/BF00388468.
5
Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.女性同卵双胞胎之一中杜氏肌营养不良症X染色体失活失败。
Neurology. 1977 Jun;27(6):537-41. doi: 10.1212/wnl.27.6.537.
6
Impaired muscle differentiation in explant cultures of Duchenne muscular dystrophy.杜兴氏肌肉营养不良外植体培养中肌肉分化受损。
Lab Invest. 1984 Feb;50(2):197-207.
7
Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle.正常肌肉与杜氏肌营养不良症肌肉细胞培养物生长模式的比较。
J Neurol Sci. 1984 May;64(2):149-60. doi: 10.1016/0022-510x(84)90033-9.
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9
Differential glucocorticoid effects on the fusion of Duchenne/Becker and control muscle cultures: pharmacologic detection of accelerated aging in dystrophic muscle.糖皮质激素对杜兴氏/贝克氏肌营养不良症与对照肌肉培养物融合的不同影响：营养不良性肌肉加速衰老的药理学检测
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10
Possible manifestation of the dystrophic X chromosome in muscle cultures from carriers of Duchenne muscular dystrophy.
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引用本文的文献

1
Response to DNA-damaging agents in cultured cells from patients with X-linked duchenne muscular dystrophy phenotype: male DMD, female DMD, possible carriers.X 连锁杜兴氏肌营养不良表型患者培养细胞对 DNA 损伤剂的反应：男性 DMD、女性 DMD、可能的携带者。
Cytotechnology. 1987 Oct;1(1):99-102. doi: 10.1007/BF00351133.
2
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.1-磷酸半乳糖尿苷酰转移酶缺乏症中骨骼肌受累的临床和生化证据。
J Neurol. 1993 May;240(5):272-7. doi: 10.1007/BF00838160.
3
Stable hybrid myotubes: a new model for studying re-expression of enzymatic activities in vitro.

本文引用的文献

1
MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.患有特纳综合征的女孩的杜氏肌营养不良症
J Med Genet. 1965 Mar;2(1):38-46. doi: 10.1136/jmg.2.1.38.
2
An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.一名患有杜氏肌营养不良症女孩的(X;11)易位。储存库识别号GM1695。
Cytogenet Cell Genet. 1980;27(4):268. doi: 10.1159/000131496.
3
Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.一名患有杜氏肌营养不良症的女性中的(X;6)易位：对DMD基因座定位的影响
Ital J Neurol Sci. 1993 Jan;14(1):35-43. doi: 10.1007/BF02339040.
4
Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.
J Neurol. 1987 Dec;235(2):74-9. doi: 10.1007/BF00718013.
5
Muscle glucose-6-phosphate dehydrogenase deficiency.
J Neurol. 1989 May;236(4):193-8. doi: 10.1007/BF00314498.
6
Increased acetylcholine sensitivity in Duchenne muscular dystrophy myotubes.
Ital J Neurol Sci. 1991 Apr;12(2):181-5. doi: 10.1007/BF02337031.
7
Hereditary human myopathies in muscle culture.肌肉培养中的遗传性人类肌病。
Ital J Neurol Sci. 1991 Jun;12(3):257-68. doi: 10.1007/BF02337773.
J Med Genet. 1981 Dec;18(6):442-7. doi: 10.1136/jmg.18.6.442.
4
Clinically manifesting carriers in Duchenne muscular dystrophy.杜氏肌营养不良症的临床显性携带者
Clin Genet. 1981 Jul;20(1):6-12. doi: 10.1111/j.1399-0004.1981.tb01799.x.
5
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.一名患有X/常染色体易位的女性的杜氏肌营养不良症（DMD）：进一步证明DMD基因座位于Xp21。
Am J Hum Genet. 1981 Jul;33(4):513-8.
6
Manifesting carrier of x-linked Duchenne muscular dystrophy.
J Neurol Sci. 1981 Mar;49(3):455-63. doi: 10.1016/0022-510x(81)90034-4.
7
Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy.一名有杜氏肌营养不良家族史的年轻女性患有进行性肌肉疾病。
Arch Neurol. 1982 Jun;39(6):378-80. doi: 10.1001/archneur.1982.00510180056015.
8
Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis.杜氏肌营养不良症。遗传学方面、携带者检测及产前诊断。
Br Med Bull. 1980 May;36(2):117-22. doi: 10.1093/oxfordjournals.bmb.a071624.
9
Possible manifestation of the dystrophic X chromosome in muscle cultures from carriers of Duchenne muscular dystrophy.
Exp Neurol. 1983 Mar;79(3):720-8. doi: 10.1016/0014-4886(83)90036-5.
10
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.一名女性因涉及Xp21的易位及正常X染色体的非随机失活而表现出X连锁型肌营养不良。
Hum Genet. 1984;67(1):115-9. doi: 10.1007/BF00270570.