- The
fainting goat or
myotonic goat is an
American breed of goat. It is
characterised by
myotonia congenita, a
hereditary condition that may
cause it to...
-
Myotonic dystrophy (DM) is a type of
muscular dystrophy, a
group of
genetic disorders that
cause progressive muscle loss and weakness. In DM,
muscles are...
-
channel transport) such as
myotonia congenita,
paramyotonia congenita and
myotonic dystrophy.
Brody disease (a
disease of ion pump transport) has symptoms...
-
Becker muscular dystrophy,
facioscapulohumeral muscular dystrophy, and
myotonic dystrophy,
whereas limb–girdle
muscular dystrophy and
congenital muscular...
- Myotonin-protein
kinase (MT-PK) also
known as
myotonic dystrophy protein kinase (MDPK) or
dystrophia myotonica protein kinase (DMPK) is an
enzyme that...
-
Imburgia C, Dunn D, et al. (February 2021). "Po****tion-Based
Prevalence of
Myotonic Dystrophy Type 1
Using Genetic Analysis of
Statewide Blood Screening Program"...
-
subcategory of
repeat disorders. In 1992, for
myotonic dystrophy type 1 (DM1), CTG
expansion was
found in the
myotonic dystrophy protein kinase (DMPK) 3' UTR...
-
common in
trinucleotide repeat disorders, such as Huntington's
disease and
myotonic dystrophy,
where a
dynamic mutation in DNA occurs. All of
these diseases...
-
function of the
protein encoded by the
affected gene. In others, such as
Myotonic Dystrophy Type 1, the
pathology is
caused by a
change in
protein expression...
-
cannot relax after they contract.
Myotonic dystrophy has two main types: DM1 (Steinert disease) and DM2 (proximal
myotonic myopathy). Both
types can cause...
