A family of juvenile proximal spinal muscular atrophy with dominant inheritance. 1976

A Cao, and C Cainchetti, and L Calisti, and W Tangheroni

A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009133 Muscular Atrophy Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. Atrophy, Muscle,Neurogenic Muscular Atrophy,Neurotrophic Muscular Atrophy,Atrophies, Muscle,Atrophies, Muscular,Atrophies, Neurogenic Muscular,Atrophies, Neurotrophic Muscular,Atrophy, Muscular,Atrophy, Neurogenic Muscular,Atrophy, Neurotrophic Muscular,Muscle Atrophies,Muscle Atrophy,Muscular Atrophies,Muscular Atrophies, Neurogenic,Muscular Atrophies, Neurotrophic,Muscular Atrophy, Neurogenic,Muscular Atrophy, Neurotrophic,Neurogenic Muscular Atrophies,Neurotrophic Muscular Atrophies
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
D005260 Female Females
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
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
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
D013122 Spinal Diseases Diseases involving the SPINE. Disease, Spinal,Diseases, Spinal,Spinal Disease

Related Publications

A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
July 1980, Rinsho shinkeigaku = Clinical neurology,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
April 1984, Annals of neurology,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
December 1971, Klinische Monatsblatter fur Augenheilkunde,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
March 2012, Neuromuscular disorders : NMD,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
September 1972, Neurology,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
June 2013, American journal of human genetics,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
May 1983, Postgraduate medical journal,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
January 1977, Clinical and experimental neurology,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
January 1968, Neurologia i neurochirurgia polska,
A Cao, and C Cainchetti, and L Calisti, and W Tangheroni
December 1981, Zhonghua yi xue za zhi,
Copied contents to your clipboard!