Entry - %600332 - RIPPLING MUSCLE DISEASE 1; RMD1 - OMIM

 
ICD+
% 600332

RIPPLING MUSCLE DISEASE 1; RMD1


Cytogenetic location: 1q41     Genomic coordinates (GRCh38): 1:214,400,001-223,900,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q41 Rippling muscle disease-1 600332 AD 2
Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
MUSCLE, SOFT TISSUES
- Muscle cramps with exercise
- Muscle pain with exercise
- Muscle stiffness with exercise
- Muscle hyperirritability
- Muscle hypertrophy
- Muscle mounding
- Percussion-induced rapid rolling muscle contractions (PIRC)
- Muscle activity is electrically silent on EMG
MISCELLANEOUS
- Genetic heterogeneity (see RMD, 606072)
▲ Close

▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 (606072).

▼ Mapping

In a 44-member pedigree segregating autosomal dominant RMD, Stephan et al. (1994) localized the responsible gene to the distal end of the long arm of chromosome 1 (maximum multipoint lod score of 3.56 at theta of 0.0) in a 12-cM region near D1S235.

Stephan and Hoffman (1999) constructed a physical map of the region of 1q containing the RMD1 locus. They also narrowed the critical genetic interval containing the RMD1 locus in their family from 12 to 3 cM. A YAC/BAC contig spanning the nonrecombinant interval containing the RMD1 locus was assembled by STS content mapping and database searches.


▼ REFERENCES

  1. Stephan, D. A., Buist, N. R. M., Chittenden, A. B., Ricker, K., Zhou, J., Hoffman, E. P. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology 44: 1915-1920, 1994. [PubMed: 7936247, related citations] [Full Text]

  2. Stephan, D. A., Hoffman, E. P. Physical mapping of the rippling muscle disease locus. Genomics 55: 268-274, 1999. [PubMed: 10049580, related citations] [Full Text]


Contributors:
Ada Hamosh - updated : 6/28/2001
Victor A. McKusick - updated : 4/12/1999
Creation Date:
Victor A. McKusick : 1/23/1995
Edit History:
carol : 03/27/2017
carol : 03/21/2012
alopez : 3/17/2004
carol : 6/6/2003
carol : 6/29/2001
mgross : 6/29/2001
mgross : 6/29/2001
mgross : 6/29/2001
mgross : 6/28/2001
carol : 4/12/1999
carol : 9/8/1998
dkim : 9/8/1998
mimadm : 9/23/1995
carol : 1/31/1995
carol : 1/26/1995
carol : 1/24/1995
carol : 1/23/1995

% 600332

RIPPLING MUSCLE DISEASE 1; RMD1


ORPHA: 97238;   DO: 0070308;  


Cytogenetic location: 1q41     Genomic coordinates (GRCh38): 1:214,400,001-223,900,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q41 Rippling muscle disease-1 600332 Autosomal dominant 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 (606072).

Mapping

In a 44-member pedigree segregating autosomal dominant RMD, Stephan et al. (1994) localized the responsible gene to the distal end of the long arm of chromosome 1 (maximum multipoint lod score of 3.56 at theta of 0.0) in a 12-cM region near D1S235.

Stephan and Hoffman (1999) constructed a physical map of the region of 1q containing the RMD1 locus. They also narrowed the critical genetic interval containing the RMD1 locus in their family from 12 to 3 cM. A YAC/BAC contig spanning the nonrecombinant interval containing the RMD1 locus was assembled by STS content mapping and database searches.


REFERENCES

  1. Stephan, D. A., Buist, N. R. M., Chittenden, A. B., Ricker, K., Zhou, J., Hoffman, E. P. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology 44: 1915-1920, 1994. [PubMed: 7936247] [Full Text: https://doi.org/10.1212/wnl.44.10.1915]

  2. Stephan, D. A., Hoffman, E. P. Physical mapping of the rippling muscle disease locus. Genomics 55: 268-274, 1999. [PubMed: 10049580] [Full Text: https://doi.org/10.1006/geno.1998.5689]


Contributors:
Ada Hamosh - updated : 6/28/2001
Victor A. McKusick - updated : 4/12/1999

Creation Date:
Victor A. McKusick : 1/23/1995

Edit History:
carol : 03/27/2017
carol : 03/21/2012
alopez : 3/17/2004
carol : 6/6/2003
carol : 6/29/2001
mgross : 6/29/2001
mgross : 6/29/2001
mgross : 6/29/2001
mgross : 6/28/2001
carol : 4/12/1999
carol : 9/8/1998
dkim : 9/8/1998
mimadm : 9/23/1995
carol : 1/31/1995
carol : 1/26/1995
carol : 1/24/1995
carol : 1/23/1995



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 27, 2024