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Congenital Myasthenic Syndrome - CHRNE related

Breed: Parson Russell Terrier

Generic Phene Data

General

Disease Name
Congenital Myasthenic Syndrome - CHRNE related
Mutation
c.633_634insC
Mutation 2
c.1436_1437insG
Test Type
Genetic Disease/Disorder
Details
Severe exercise-induced weakness. Age of onset from 4 weeks. Pups often sadly euthanized before 8 weeks of age.
Details 2
Congenital myasthenic syndromes (CMSs) are a group of rare genetic disorders of the neuromuscular junction resulting in structural or functional causes of fatigable weakness that usually begins early in life... CMS was first recognized in dogs in 1974 as an autosomal recessive trait in Jack Russell Terriers (JRTs). (Rinz et al 2015)
Published
Rinz, C.J., Lennon, V.A., James, F., Thoreson, J.B., Tsai, K.L., Starr-Moss, A.N., Humphries, H.D., Guo, L.T., Palmer, A.C., Clark, L.A., Shelton, G.D. : A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord 25:921-7, 2015. Pubmed reference: 26429099. DOI: 10.1016/j.nmd.2015.09.005.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

BioBank AS

GTP Name
BioBank AS
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

INNO

GTP
GTP Name
INNO
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

VetGen LLC

GTP Name
VetGen LLC
Gene Name
CHRNE

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CHRNE
Mutation
c.633_634insC; c.1436_1437insG
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