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Genomes and Genes | M MiloneSummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
Myotonia associated with caveolin-3 mutationMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
Muscle Nerve 45:897-900. 2012..Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy...- Amyloidosis and exercise intolerance in ANO5 muscular dystrophyMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neuromuscul Disord 22:13-5. 2012..To our knowledge this is the first report of muscle amyloidosis in anoctamin 5 muscular dystrophy. This finding suggests that patients with amyloid in muscle should be screened for anoctamin 5 muscular dystrophy... - Novel POLG splice site mutation and optic atrophyMargherita Milone
Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Arch Neurol 68:806-11. 2011..To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them... - Polymerase gamma 1 mutations: clinical correlationsMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA
Neurologist 16:84-91. 2010..Since then, it has emerged that POLG1 mutations can result in a spectrum of clinical manifestations, resulting in autosomal recessive or dominant mitochondrial diseases... 
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patientsM Milone
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurology 73:228-35. 2009..Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes...- Mitochondrial disorder with OPA1 mutation lacking optic atrophyMargherita Milone
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester MN, 55905, USA
Mitochondrion 9:279-81. 2009..This patient provides evidence that optic atrophy is not the main clinical manifestation of OPA1-related disorders. OPA1 analysis should be considered in mitochondrial disorders despite the lack of optic atrophy... - Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotoniaMargherita Milone
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA
Muscle Nerve 39:383-5. 2009..Muscle biopsy showed nonspecific myopathic features and highly atrophic fibers with nuclear clumps. DM2 should be considered in patients with focal proximal weakness and abnormal EMG without myotonic discharges... 
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndromeA G Engel
Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
Hum Mol Genet 5:1217-27. 1996..The safety margin of neuromuscular transmission is compromised by AChR loss from the junctional folds and by a depolarization block owing to temporal summation of prolonged end plate potentials at physiologic rates of stimulation...- Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndromeH L Wang
Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
J Gen Physiol 116:449-62. 2000..The findings further suggest that the fundamental gating mechanism of the AChR channel can be explained by a corrugated energy landscape superimposed on a steeply sloped energy well... - Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assemblyP A Quiram
Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Clinic, Rochester, Minnesota 55905, USA
J Clin Invest 104:1403-10. 1999..The findings imply that the mutated residues are positioned at the interface between beta and delta subunits and demonstrate contribution of this local region of the long cytoplasmic loop to AChR assembly... - Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gatingH L Wang
Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
Nat Neurosci 2:226-33. 1999..Thus, we demonstrate a functional role for the M3 domain as a key component of the nicotinic acetylcholine receptor channel-gating mechanism... - Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutationsK Ohno
Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic and Foundation, Rochester, MN 55905, USA
Hum Mol Genet 6:753-66. 1997..The consequences of the endplate AChR deficiency are mitigated by persistent expression of gamma-AChR, changes in the release of transmitter quanta and appearance of multiple endplate regions on the muscle fiber... - Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunitM Milone
Muscle Research Laboratory, Department of Neurology, Mayo Foundation, Rochester, Minnesota 55905, USA
J Neurosci 17:5651-65. 1997.... - Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunitK Ohno
Muscle Research Laboratory, Department of Neurology, Mayo Foundation, Rochester, Minnesota 55905, USA
Neuron 17:157-70. 1996..Studies of the engineered epsilon P121L AChR revealed a markedly decreased rate of channel opening, little change in affinity of the resting state for ACh, but reduced affinity of the open channel and desensitized states... - Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinityS M Sine
Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
Neuron 15:229-39. 1995..Thus, ACh binding affinity can dictate the time course of the synaptic response, and alpha G153 contributes to the low binding affinity for ACh needed to speed the decay of the synaptic response... - The spectrum of mutations causing end-plate acetylcholinesterase deficiencyK Ohno
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Ann Neurol 47:162-70. 2000.... - Novel congenital myasthenic syndromes associated with defects in quantal releaseM Milone
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurology 66:1223-9. 2006..CONCLUSIONS: Combined clinical, morphologic, and in vitro electrophysiologic findings define two novel congenital myasthenic syndromes. The molecular basis of these syndromes awaits discovery... - Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundariesK Ohno
Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
J Med Genet 42:e53. 2005..Only three of the eight intronic splice site mutations of CHRNE reported to date have had their splicing consequences characterised... - Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunitK Ohno
Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905
Proc Natl Acad Sci U S A 92:758-62. 1995..This observation raises the possibility that mutations involving subunits of other ligand-gated channels may also exist and be the basis of various other neurologic or psychiatric disorders...