X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

Author:

Lehesjoki A E,Sankila E M,Miao J,Somer M,Salonen R,Rapola J,de la Chapelle A

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Morphologic and morphometric analysis of muscle in X-linked myotubular myopathy;Silver, M.M.; Gilbert, J.J.; Stewart, S.; Brabyn, D.; Jung, J.;Hum Pathol,1986

2. X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 DNA markers;Thomas, N.S.T.; Sarfarazi, M.; Roberts, K.;Cytogenet Cell Genet,1987

3. X-linked myotubular myopathy. A linkage study;Darnfors, C.; Borje Larsson, H.E.; Oldfors, A.;Cytogenet Cell Genet,1989

4. Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome;Dahl, N.; Hammarstrom-Heeroma, K.; Goonewardena, P.;Hum Genet,1989

5. Isolation of a new DNA marker tighdy linked to the fragile-X locus (FRAXA);Dahl, N.; Malmstrom, H.; Hammarstrom-Heeroma, K.;Cytogenet Cell Genet,1989

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1. Congenital (Structural) Myopathies;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

2. Centronuclear (myotubular) myopathy;Orphanet Journal of Rare Diseases;2008-09-25

3. PTEN and Myotubularin: Novel Phosphoinositide Phosphatases;Annual Review of Biochemistry;2001-06

4. Kongenitale und Mitochondriale Myopathien;Monogen bedingte Erbkrankheiten 1;2000

5. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case;Cytogenetic and Genome Research;1999

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