Biomaterial Database

Familial centronuclear myopathy: a clinical and pathological study. 1987

E Reske-Nielsen, and O Hein-Sørensen, and P Vorre

Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.

A congenital myotubular myopathy in a family is presented. An elderly woman, her daughter and her granddaughter showed the characteristic clinical and histological pattern of the disease. It is still a matter of debate whether the disease is of myopathic or neuropathic origin. The similarity of the muscle fibre with a myotube of the fetus might point towards an arrest of the maturation after 20th week of gestation perhaps caused by a lack of a trophic factor from the motor nerve.

UI	MeSH Term	Description	Entries
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D009046	Motor Neurons	Neurons which activate MUSCLE CELLS.	Neurons, Motor,Alpha Motorneurons,Motoneurons,Motor Neurons, Alpha,Neurons, Alpha Motor,Alpha Motor Neuron,Alpha Motor Neurons,Alpha Motorneuron,Motoneuron,Motor Neuron,Motor Neuron, Alpha,Motorneuron, Alpha,Motorneurons, Alpha,Neuron, Alpha Motor,Neuron, Motor
D009132	Muscles	Contractile tissue that produces movement in animals.	Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009468	Neuromuscular Diseases	A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.	Amyotonia Congenita,Oppenheim Disease,Cramp-Fasciculation Syndrome,Fasciculation-Cramp Syndrome, Benign,Foley-Denny-Brown Syndrome,Oppenheim's Disease,Benign Fasciculation-Cramp Syndrome,Benign Fasciculation-Cramp Syndromes,Cramp Fasciculation Syndrome,Cramp-Fasciculation Syndromes,Fasciculation Cramp Syndrome, Benign,Fasciculation-Cramp Syndromes, Benign,Foley Denny Brown Syndrome,Neuromuscular Disease,Oppenheims Disease,Syndrome, Cramp-Fasciculation,Syndrome, Foley-Denny-Brown,Syndromes, Cramp-Fasciculation
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002467	Cell Nucleus	Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)	Cell Nuclei,Nuclei, Cell,Nucleus, Cell
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults