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Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier Ltd, 2017)
© 2017 Elsevier B.V. Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and ...
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier, 2017)
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy
(PERGAMON-ELSEVIER SCIENCE LTDOXFORD, 2012)
X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally located nuclei in muscle myofibers. ...
Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset
(Academia Brasileira de Neurologia - ABNEURO, 1998-03-01)
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; ...
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy
(Wiley-Blackwell, 2005-04-30)
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype
(2020-01-01)
Objective To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers. Methods Twelve Brazilian families with XLMTM were ...
Consensus Statement on Standard of Care for Congenital Myopathies
(SAGE PUBLICATIONS INCTHOUSAND OAKS, 2012)
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to ...
"Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy
(Springer Verlag, 2009)
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...
Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
(WILEY-BLACKWELLMALDEN, 2012)
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due ...