281 papers found
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Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
Homozygous female Becker muscular dystrophy
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders
RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Clinical and genetic analysis of lipid storage myopathies
Chapter 19 Monitoring Autophagy in Muscle Diseases
Development of therapy for distal myopathy with rimmed vacuoles
Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
Distal Myopathy in Multi-minicore Disease
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives
Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM
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