X-linked myotubular myopathy — A long-term follow-up study
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference10 articles.
1. Familial ‘myotubular myopathy’;Van Wijngaarden;Neurology,1969
2. X-linked myotubular myopathy with fatal neonatal asphyxia;Barth;Neurology,1975
3. The myotubular myopathies: differential diagnosis of the X-linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies;Wallgren-Pettersson;J Med Genet,1995
4. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Hu;Nat Genet,1996
5. Maturational arrest of fetal muscle in neonatal myotonic dystrophy: a pathologic study of four cases;Sarnat;Arch Neurol,1976
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1. Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool;Genes;2023-12-03
2. X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy;Journal of Pediatric Genetics;2021-06-01
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4. Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance;Journal of Neuromuscular Diseases;2021-01-01
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