BIOMAT Database Logo BIOMAT Database Logo

Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. 1991

H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Department of Human Genetics, Radboud Hospital, Nijmegen, The Netherlands.

We identified a large kindred that shows classical myotonic dystrophy (MyD), together with hereditary motor and sensory neuropathy (HMSN) in some individuals, and HMSN alone in others. A previous study of this family has shown cosegregation of the MyD and HMSN phenotypes with the Lutheran and secretor loci in some branches of the family, indicating linkage to chromosome 19. We reanalyzed this family with 2 recombinant DNA marker systems from the ApoC2 locus on chromosome 19. Our results demonstrate that all affected individuals have inherited a unique ApoC2 haplotype that was not found in their clinically and electrophysiologically normal sibs. We also obtained evidence against involvement of the HMSN I locus on chromosome 17. In this family, a moderately severe neuropathy may be the only clinical sign of MyD for many years. Our results are consistent with an unusual neuropathic mutation at the MyD gene. However, involvement of 2 closely linked genes (1 for MyD and the other for HMSN) can also explain our findings.

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
D009223 Myotonic Dystrophy Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker
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
D010808 Physical Examination Systematic and thorough inspection of the patient for physical signs of disease or abnormality. Physical Exam,Examination, Physical,Physical Examinations and Diagnoses,Exam, Physical,Examinations, Physical,Exams, Physical,Physical Examinations,Physical Exams
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D002888 Chromosomes, Human, Pair 19 A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. Chromosome 19
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA

Related Publications

H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Myotonic dystrophy associated with hereditary motor and sensory neuropathy.
December 1986, Brain : a journal of neurology,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.
January 2010, Journal of the neurological sciences,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Deterioration of motor function in myotonic dystrophy and hereditary motor and sensory neuropathy.
March 1995, Scandinavian journal of rehabilitation medicine,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Autonomic nervous system function in genetic neuromuscular disorders. Hereditary motor-sensory neuropathy and myotonic dystrophy.
January 1984, Archives of neurology,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Axonal motor and sensory neuropathy in myotonic dystrophy.
August 1993, Acta neurologica Scandinavica,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.
January 1990, American journal of human genetics,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.
January 2000, Pflugers Archiv : European journal of physiology,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.
January 2000, Pflugers Archiv : European journal of physiology,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial.
July 1995, Archives of physical medicine and rehabilitation,
H G Brunner, and F Spaans, and H J Smeets, and M Coerwinkel-Driessen, and T Hulsebos, and B Wieringa, and H H Ropers
Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.
April 2007, Acta neurologica Scandinavica,
Copied contents to your clipboard!