Results 81 to 90 of about 27,107 (181)
Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Hyewon Woo +10 more
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X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation [PDF]
, 2011 X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory ...
이진성 +12 more
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, 2018 International audienceX-linked myotubular myopathy (XLMTM) is a severe congenital disorder in male infants that leads to generalized skeletal muscle weakness and is frequently associated with fatal respiratory failure. XLMTM is caused by loss-of-function
Daniele, N. +17 more
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Frontiers in MedicineBackgroundCongenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized.ObjectiveTo synthesize current evidence on ...
Sergio Rinella +9 more
doaj +1 more source
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
, 2017 International audienceX-linked myotubular myopathy (XLMTM), a devastating pediatric disease caused by the absence of the protein myotubularin, results from mutations in the MTM1 gene.
Kelly, Valerie +27 more
core +1 more source
Cell Transplantation, 2015 X-linked myotubular myopathy (XLMTM) is an isogenic muscle disease characterized by progressive wasting of skeletal muscle, weakness, and premature death of affected male offspring.
Hyun Ju Lim +9 more
doaj +1 more source
[Cousins with X-linked recessive myotubular myopathy].
No to hattatsu = Brain and development, 1997 We describe two cousins with severe infantile form of myotubular myopathy. In Japan this disease has previously been reported in only three families. Case 1. The propositus, a 2-year-5-month-old boy, had been on a respirator since birth. He had a history of severe neonatal asphyxia and sequential hypotonia with dyspnea.
Mori, Yosuke +10 more
openaire +2 more sources
Centronuclear myopathy in a Border collie dog
, 2012 A two-year old, male entire Border collie was presented with a one-year history of exercise-induced collapsing on the pelvic limbs. Physical examination revealed generalised muscle atrophy.
Eminaga S. +2 more
core +1 more source
Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies
, 2020 Background: Seven male Labrador Retriever puppies from 3 different litters, born to clinically normal dams and sires, were evaluated for progressive weakness and muscle atrophy.
M Van Der Kooij +5 more
core
Diagnosis of X‐linked myotubular myopathy by detection of myotubularin
, 2001 Mutations in the MTM1 gene cause X-linked recessive myotubular myopathy (XLMTM; MIM310400). Myotubularin, the implicated protein, is a phosphoinositide phosphatase that belongs to a large protein family conserved through evolution that also includes the ...
Mandel, Jean-Louis +5 more
core +1 more source