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Literature DB >> 3723154

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

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

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.

Entities: Disease Species

Mesh：

Year: 1986 PMID： 3723154 DOI： 10.1007/bf00314426

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

16 in total

1. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

Authors: B S Emanuel; E H Zackai; S H Tucker
Journal: J Med Genet Date: 1983-12 Impact factor: 6.318

Review 2. Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis.

Authors: A E Emery
Journal: Br Med Bull Date: 1980-05 Impact factor: 4.291

3. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

Authors: P A Jacobs; P A Hunt; M Mayer; R D Bart
Journal: Am J Hum Genet Date: 1981-07 Impact factor: 11.025

4. Possible manifestation of the dystrophic X chromosome in muscle cultures from carriers of Duchenne muscular dystrophy.

Authors: E J Thompson; R Yasin; B D Lake; N P Cavanagh
Journal: Exp Neurol Date: 1983-03 Impact factor: 5.330

5. Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy.

Authors: B J Olson; G M Fenichel
Journal: Arch Neurol Date: 1982-06

6. Severe muscular dystrophy in girls.

Authors: D Gardner-Medwin; H M Johnston
Journal: J Neurol Sci Date: 1984-04 Impact factor: 3.181

7. Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.

Authors: G Meola; E Scarpini; L Manfredi; M Velicogna; G Pellegrini; C A Redi; G Scarlato
Journal: Basic Appl Histochem Date: 1984

8. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

Authors: C Verellen-Dumoulin; M Freund; R De Meyer; C Laterre; J Frédéric; M W Thompson; V D Markovic; R G Worton
Journal: Hum Genet Date: 1984 Impact factor: 4.132

9. Manifesting carrier of x-linked Duchenne muscular dystrophy.

Authors: G Meola; E Scarpini; V Silani; G Scarlato
Journal: J Neurol Sci Date: 1981-03 Impact factor: 3.181

10. Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.

Authors: M R Gomez; A G Engel; G Dewald; H A Peterson
Journal: Neurology Date: 1977-06 Impact factor: 9.910

7 in total

1. Increased acetylcholine sensitivity in Duchenne muscular dystrophy myotubes.

Authors: G Meola; E Mancinelli; L Geremia; G Scarlato
Journal: Ital J Neurol Sci Date: 1991-04

2. Response to DNA-damaging agents in cultured cells from patients with X-linked duchenne muscular dystrophy phenotype: male DMD, female DMD, possible carriers.

Authors: L Barsi; G Meola; M Velicogna; C Bonifati; A M Fuhrman Conti; G Scarlato
Journal: Cytotechnology Date: 1987-10 Impact factor: 2.058

3. Stable hybrid myotubes: a new model for studying re-expression of enzymatic activities in vitro.

Authors: G Meola; V Sansone; G Rotondo; S Radice; G Bottiroli; G Scarlato
Journal: Ital J Neurol Sci Date: 1993-01

4. Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

Authors: N Bresolin; G P Comi; F Fortunato; G Meola; A Gallanti; A Tajana; M Velicogna; E F Gonano; P Ninfali; S Pifferi
Journal: J Neurol Date: 1993-05 Impact factor: 4.849