Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy - Harel, Tamar; Yesil, Gozde; Bayram, Yavuz; Coban-Akdemir, Zeynep; Charng, Wu-Lin; Karaca, Ender; Al Asmari, Ali; Eldomery, Mohammad K.; Hunter, Jill V.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Pehlivan, Davut; et al. (American journal of human genetics, 2016)
Keywords: Adolescent; Alleles; Amino Acid Sequence; Atrophy - diagnosis; Atrophy - genetics; cerebellar atrophy; Cerebellum - pathology; Child; Child, Preschool; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; EMC1; endoplasmic reticulum (ER)-membrane complex; Endoplasmic Reticulum-Associated Degradation; Female; Genetic Association Studies; Genetic Variation; Genotype & phenotype; Heterozygote; Humans; inter-organellar communication; intracellular transport; Magnetic Resonance Imaging; Male; Mitochondria; mitochondrial membrane; Molecular Sequence Data; Muscle Hypotonia - diagnosis; Muscle Hypotonia - genetics; Mutation; neurodegeneration; NMR; Nuclear magnetic resonance; Pedigree; Protein Folding; Proteins - genetics; Proteins - metabolism; Scoliosis - diagnosis; Scoliosis - genetics; Whole-exome sequencing; endoplasmic reticulum (ER)-membrane complex; intracellular transport; Whole-exome sequencing; EMC1; inter-organellar communication; mitochondrial membrane; neurodegeneration; cerebellar atrophy