Myotubular myopathy: morphological, immunohistochemical and clinical variation
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference37 articles.
1. Congenital myopathies;Bodensteiner;Muscle Nerve,1994
2. Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430kB region;Hu;Hum Mol Genet,1996
3. X-Linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new highly informative microsatellite marker (DXS1684);Dahl;J Med Genet,1994
4. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Laporte;Nat Genet,1996
5. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy;de Gouyon;Hum Mol Genet,1997
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2. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons;Journal of Neuropathology & Experimental Neurology;2016-01-28
3. Congenital (Structural) Myopathies;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
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5. A synaptic nidogen: Developmental regulation and role of nidogen-2 at the neuromuscular junction;Neural Development;2008-09-25
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