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Literature DB >> 4954227

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.

A J Spiro, G M Shy, N K Gonatas.

Abstract

Entities: Disease Species

Mesh：

Year: 1966 PMID： 4954227 DOI： 10.1001/archneur.1966.00470070005001

Source DB: PubMed Journal: Arch Neurol ISSN： 0003-9942

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67 in total

1. Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene.

Authors: Yunli Zhou; Pornsuk Cheunsuchon; Yuki Nakayama; Michael W Lawlor; Ying Zhong; Kimberley A Rice; Li Zhang; Xun Zhang; Francesca E Gordon; Hart G W Lidov; Roderick T Bronson; Anne Klibanski
Journal: Development Date: 2010-07-07 Impact factor: 6.868

2. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

Authors: N S Thomas; H Williams; G Cole; K Roberts; A Clarke; S Liechti-Gallati; S Braga; A Gerber; C Meier; H Moser
Journal: J Med Genet Date: 1990-05 Impact factor: 6.318

3. A linkage study of a large pedigree with X linked centronuclear myopathy.

Authors: J Starr; M Lamont; L Iselius; J Harvey; J Heckmatt
Journal: J Med Genet Date: 1990-05 Impact factor: 6.318

4. Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.

Authors: Young-Eun Park; Young-Chul Choi; Jong-Suk Bae; Chang-Hoon Lee; Hyang-Suk Kim; Jin-Hong Shin; Dae-Seong Kim
Journal: J Clin Neurol Date: 2014-01-06 Impact factor: 3.077

5. Electromyographic findings in the so-called non-progressive myopathies.

Authors: I Hausmanowa-Petrusewicz; B Ryniewicz
Journal: J Neurol Date: 1976-02-13 Impact factor: 4.849

6. Detection of myopathies in children by 1H nuclear magnetic resonance (NMR) and comparison with histopathological patterns.

Authors: R Scelsi; F Savoldi; L Borghi; M Villa
Journal: Ital J Neurol Sci Date: 1984-12

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.

1. Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene.

2. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

3. A linkage study of a large pedigree with X linked centronuclear myopathy.

4. Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.

5. Electromyographic findings in the so-called non-progressive myopathies.

6. Detection of myopathies in children by 1H nuclear magnetic resonance (NMR) and comparison with histopathological patterns.

7. Familial centronuclear myopathy.

8. Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.

9. Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.

10. Autosomal dominant centronuclear myopathy with unique clinical presentations.