A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1

We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations. The age of onset ranged from the 30s to the 50s. Hip girdle, neck flexion and axial muscle weakness were involved at an early stage. This disease progressed slowly, and a shoulder girdle weakness appeared later in the disease course. Muscle biopsies showed necrotic, regenerating, and rimmed vacuolated fibers as well as congophilic inclusions in some of the fibers. Electron micrograph revealed cytoplasmic inclusions of 15–21 nm filaments. A genomewide scan and haplotype analyses were performed using an Illumina Linkage-12 DNA Analysis Kit (average spacing 0.58 cM), which traced the disease to a new locus on chromosome 7q22.1–31.1 with a maximum multi-point LOD score of 3.65. The critical locus for this unique disorder, which is currently referred to as hereditary inclusion body myopathy 4 (HIBM4), spans 8.78 Mb and contains 65 genes. This localization raises the possibility that one of the genes clustered within this region may be involved in this disorder

C1s CEBEs of Hydrocarbons on Elemental Oxides. II. The Adsorption Type of CH4 on the MgO Cluster

Experimental C1s core-electron binding energy (CEBE) of hydrocarbons, alcohols or organic acids, which contain CnH2n+1-functional group, on MgO is determined as 286.5 eV. The value is larger than 285.0 eV as the standard value relative to the C1s CEBE of polyethylene. We discuss the physisorption type of CH4 on the MgO clusters from theoretical viewpoints of both ab initio molecular orbital (MO) and density-functional theory (DFT) calculations. We try to indicate whether the organic molecules physisorb on MgO, or not, using accurate computational results of CEBE by the DFT calculation