BIOMAT Database Logo BIOMAT Database Logo

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. 1995

M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA.

Limb-girdle muscular dystrophy (LGMD) is a diagnostic classification encompassing a broad group of proximal myopathies. A gene for the dominant form of LGMD (LGMD1A) has recently been localized to a 7-cM region of chromosome 5q between D5S178 and IL9. We studied three additional dominant LGMD families for linkage to these two markers and excluded all from localization to this region, providing evidence for locus heterogeneity within the dominant form of LGMD. Although patterns of muscle weakness were similar in all families studied, the majority of affected family members in the chromosome 5-linked pedigree have a dysarthric speech pattern, which is not present in any of the five unlinked families. The demonstration of heterogeneity within autosomal dominant LGMD is the first step in attempting to subclassify these families with similar clinical phenotypes on a molecular level.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
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
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
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

Related Publications

M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Limb girdle muscular dystrophy with autosomal dominant inheritance.
April 1991, Acta neurologica Scandinavica,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Adult-onset autosomal dominant limb-girdle muscular dystrophy.
August 1986, Annals of neurology,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.
February 2001, Neurology,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
June 2010, European journal of human genetics : EJHG,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
February 1999, American journal of human genetics,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance.
January 1989, Progress in clinical and biological research,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture.
September 1999, Acta neurologica Scandinavica,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
[A family of autosomal dominant facio-limb-girdle muscular dystrophy].
December 1996, Fukuoka igaku zasshi = Hukuoka acta medica,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.
January 1988, Neurology,
M C Speer, and J M Gilchrist, and J G Chutkow, and R McMichael, and C A Westbrook, and J M Stajich, and E M Jorgenson, and P C Gaskell, and B L Rosi, and R Ramesar
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
July 1998, American journal of human genetics,
Copied contents to your clipboard!