X-inactivation patterns in carriers of X-linked myotubular myopathy (original) (raw)
Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy
Galen Breningstall
American Journal of Medical Genetics, 1991
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Manifesting carriers of X-linked myotubular myopathy
Mariz Vainzof
Neurology Genetics, 2020
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Exclusion of mutations in theMTMR1 gene as a frequent cause of X-linked myotubular myopathy
Petra Kioschis
American Journal of Medical Genetics, 2002
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X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1
Vu phan tuan
The American Journal of Human Genetics, 2008
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X-linked myotubular myopathy
Remi Bellance
Neurology, 2019
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Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
Caroline Sewry
Neuromuscular Disorders, 2003
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Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
Athanasios Evangeliou
Molecular Genetics and Metabolism Reports
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A 900-kb Cosmid Contig and 10 New Transcripts within the Candidate Region for Myotubular Myopathy (MTM1)
Petra Kioschis
Genomics, 1996
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X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers
Jean-louis Mandel
Human Genetics, 1996
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What's new in neuromuscular disorders? The congenital myopathies
Caroline Sewry
European Journal of Paediatric Neurology, 2003
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X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
Gabor Herman
Journal of Medical Genetics, 1994
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Genetic Neuromuscular Disorders
Corrado Angelini
2014
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An Integrated Diagnosis Strategy for Congenital Myopathies
Nadia Messaddeq
PLoS ONE, 2013
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X-Chromosome Inactivation
Michael Goldman
Encyclopedia of Life Sciences, 2001
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Zaspopathy in a large classic late-onset distal myopathy family
R. Griggs
Brain, 2007
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X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female
Laura Davis-Keppen
Clin Genet, 2008
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The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
R Barohn
Journal of Medical Genetics, 1995
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Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
Caroline Sewry
Nature Reviews Neurology, 2018
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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Montserrat Olive
Brain, 2014
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Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view
Ilaria Meloni
Journal of Cellular Physiology, 2005
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Xin Is a Marker of Skeletal Muscle Damage Severity in Myopathies
Mats Nilsson
The American Journal of Pathology, 2013
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Unusual molecular findings in autosomal recessive spinal muscular atrophy
Nathalie Goemans
Journal of Medical Genetics, 1996
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Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy
Frank Mastaglia
Journal of Neurology, Neurosurgery & Psychiatry, 2006
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Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
Jean-louis Mandel
Human Molecular Genetics, 1997
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Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males
Martine SINICO
American Journal of Medical Genetics Part A, 2006
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GNE myopathy: New name and new mutation nomenclature
May Malicdan
Neuromuscular Disorders, 2014
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X-linked congenital ataxia: A clinical and genetic study
Carlo Dionisi Vici
American Journal of Medical Genetics, 2000
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Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male
Kittichate Visuttijai
Neuromuscular Disorders, 2017
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Mutation studies in X-linked myotubular myopathy in three Indian families
Sunita Bijarnia
The Indian Journal of Pediatrics, 2010
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Thomas Sejersen
Nature Communications, 2019
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Adult-onset mitochondrial myopathy
Enric Pedrol
Postgraduate Medical Journal, 1992
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Hip dysplasia associated with a hereditary sensorimotor polyneuropathy mimics a myopathic process
Fateme Golneshan
2012
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A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies
G. Meola
Neuromuscular Disorders, 1996
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Prenatal evaluation for the diagnosis of X-Linked myotubular myopathy in a known affected sibling: A case report
VANDANA BANSAL
Journal of Clinical Images and Medical Case Reports, 2022
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Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
May Malicdan
Neuromuscular Disorders, 2008
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