The detail information of Muscular dystrophy, limb-girdle, type R6 (LGMDR6)
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: -

Considered a defect: yes

Year key mutation first reported: 2017

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB46 Boston Terrier 38.1-43.2 cm 4.5-11.3 kg United States
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 Cox,M.L.,Evans,J.M.,Davis,A.G.,Guo,L.T.,Levy,J.R.,Starr-Moss,A.N.,Salmela,E.,Hytönen,M.K.,Lohi,H.,Campbell,K.P.,Clark,L.A.,Shelton,G.D.: :
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle 7:15, 2017.
Pubmed reference: 28702169 . DOI: 10.1186/s13395-017-0131-0 .
2008 Deitz,K.,Morrison,J.A.,Kline,K.,Guo,L.T.,Shelton,G.D.: :
Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. J Vet Intern Med 22:476-80, 2008.
Pubmed reference: 18371037 . DOI: 10.1111/j.1939-1676.2008.0080.x .
2004 Schatzberg,SJ.,Shelton,GD.: :
Newly identified neuromuscular disorders. Vet Clin North Am Small Anim Pract 34:1497-524, 2004.
Pubmed reference: 15474686 . DOI: 10.1016/j.cvsm.2004.06.001 .