Biomaterial Database

What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy. 2001

E Mercuri, and F Muntoni

The Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, UK. emercuri@ic.ac.uk

UI	MeSH Term	Description	Entries
D009685	Nuclear Envelope	The membrane system of the CELL NUCLEUS that surrounds the nucleoplasm. It consists of two concentric membranes separated by the perinuclear space. The structures of the envelope where it opens to the cytoplasm are called the nuclear pores (NUCLEAR PORE).	Nuclear Membrane,Envelope, Nuclear,Envelopes, Nuclear,Membrane, Nuclear,Membranes, Nuclear,Nuclear Envelopes,Nuclear Membranes
D009687	Nuclear Proteins	Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.	Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002878	Chromosomes, Human, Pair 1	A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.	Chromosome 1
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020389	Muscular Dystrophy, Emery-Dreifuss	A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.	Emery-Dreifuss Syndrome,Autosomal Recessive Emery-Dreifuss Muscular Dystrophy,Emery-Dreifuss Muscular Dystrophy,Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive,Emery-Dreifuss Type Muscular Dystrophy,Muscular Dystrophy, Emery-Dreifuss Type,Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive,Muscular Dystrophy, Scapuloperoneal,Scapuloperoneal Muscular Dystrophy,Scapuloperoneal Myopathy, MYH7-Related,Autosomal Recessive Emery Dreifuss Muscular Dystrophy,Emery Dreifuss Muscular Dystrophy,Emery Dreifuss Muscular Dystrophy, Autosomal Recessive,Emery Dreifuss Syndrome,MYH7-Related Scapuloperoneal Myopathy,Muscular Dystrophy, Emery Dreifuss,Myopathy, MYH7-Related Scapuloperoneal,Scapuloperoneal Myopathy, MYH7 Related