1 The excitatory events that trigger
myotonic action potentials in the absence of stabilizing
2 slow afterdepolarization (AfD) that triggers
myotonic action potentials.
3 Skeletal muscles from ADR
myotonic animals show an increased number of oxidative f
4 ncluding muscle histological morphology, and
myotonic discharges and heart conduction abnormalities,
5 tal limbs of Tg26-hDMPK showed myopathy with
myotonic discharges coupled with deficit in sarcolemmal
6 e sodium channel alpha-subunit, resulting in
myotonic discharges in skeletal muscle of the lower urin
7 Myotonic discharges were more common in statin-associate
8 duction in the CUG(exp) mRNA, a reduction in
myotonic discharges, a shift toward adult pre-mRNA splic
9 ty and deactivation kinetics, and eliminated
myotonic discharges.
10 The
myotonic dystrophies (DM) are human diseases in which th
11 PURPOSE OF REVIEW: The
myotonic dystrophies (DM1 and DM2) are the paradigm for
12 known RNA-mediated disorders, including the
myotonic dystrophies and fragile X tremor ataxia syndrom
13 tor protein that plays a pivotal role in the
Myotonic Dystrophies and Huntington's Disease, and sever
14 Myotonic dystrophies are the most common, comprising 28.
15 The pathomechanism for the
myotonic dystrophies is not well understood and the role
16 ansions of noncoding CUG and CCUG repeats in
myotonic dystrophies type 1 (DM1) and DM2 cause complex
17 Myotonic dystrophies type 1 (DM1) and type 2 (DM2) are n
18 Myotonic dystrophies type 1 and type 2 are progressive m
19 tive approach to screening and management of
myotonic dystrophies type 1 and type 2 requires a multid
20 c mechanisms that have been proposed for the
myotonic dystrophies, the clinical and molecular feature
21 hat are specific to skeletal muscle, and the
myotonic dystrophies.
22 c syndromes, with particular emphasis on the
myotonic dystrophies.
23 e splicing and polyadenylation in congenital
myotonic dystrophy (CDM).
24 sion of a CTG repeat at the DM1 locus causes
myotonic dystrophy (DM) by altering the expression of th
25 Myotonic dystrophy (DM) is a genetic disorder caused by
26 Myotonic dystrophy (DM) is a multi-system neuromuscular
27 Myotonic dystrophy (DM) is a multisystemic disease cause
28 Myotonic dystrophy (DM) is caused by a CTG expansion in
29 Myotonic dystrophy (DM) is caused by a triplet repeat ex
30 Myotonic dystrophy (DM) is caused by either an untransla
31 The neuromuscular disease
myotonic dystrophy (DM) is caused by microsatellite repe
32 Myotonic dystrophy (DM) is caused by the expression of m
33 Myotonic dystrophy (DM) is caused by two similar noncodi
34 a topic of intense study due to its role in
myotonic dystrophy (DM) pathogenesis.
35 The RNA-mediated disease model for
myotonic dystrophy (DM) proposes that microsatellite C(C
36 Myotonic dystrophy (DM) type 1 is associated with an exp
37 (MBNL) protein family has been implicated in
myotonic dystrophy (DM), a specific function for these p
38 In
myotonic dystrophy (DM), expression of RNA containing ex
39 t roles in muscle and eye development and in
myotonic dystrophy (DM), in which expanded CUG or CCUG r
40 Myotonic dystrophy (DM), the most common form of muscula
41 Myotonic dystrophy (DM), the most common form of muscula
42 proposed first for the neuromuscular disease
myotonic dystrophy (DM), which is associated with the ex
43 Myotonic dystrophy (DM)--the most common form of muscula
44 is a key player in the disease mechanism of
myotonic dystrophy (DM).
45 tal muscle development and are implicated in
myotonic dystrophy (DM).
46 pathogenic event in the RNA-mediated disease
myotonic dystrophy (DM).
47 UGn RNA in the induction of stress in type 1
myotonic dystrophy (DM1) cells and in the stress-mediate
48 Myotonic dystrophy (DM1) is a highly variable, multi-sys
49 Type I
myotonic dystrophy (DM1) is caused by a triplet repeat e
50 Myotonic dystrophy (DM1) is caused by an expansion of CU
51 In
myotonic dystrophy (DM1), both inactivation of musclebli
52 Myotonic dystrophy (DM1), the most common muscular dystr
53 ein implicated in the pathogenesis of type I
myotonic dystrophy (DM1).
54 ated with the degenerative muscular disease,
myotonic dystrophy (DM1).
55 ated with expanded repeat sequences, such as
myotonic dystrophy (DM1).
56 In
myotonic dystrophy (dystrophia myotonica [DM]), an incre
57 ls have been implicated in schizophrenia and
myotonic dystrophy (MD), and both conditions carry an in
58 Myotonic dystrophy 1 (DM1) is a multi-system disorder ch
59 Myotonic dystrophy 1 (DM1) is a multisystemic disease ca
60 In
myotonic dystrophy 1 (DM1), aggregation of the mutant DM
61 f skeletal muscle pathology in patients with
Myotonic Dystrophy 1 (DM1).
62 Myotonic dystrophy 2 (DM2) is a multisystem skeletal mus
63 Myotonic dystrophy 2 (DM2) is an autosomal dominant, mul
64 the results with those of four patients with
myotonic dystrophy and 12 healthy individuals.
65 ely short triplet-repeat expansions found in
myotonic dystrophy and Friedreich's ataxia confer varieg
66 ween the pathogenic RNA repeat expansions of
myotonic dystrophy and MBNL1.
67 Using a cell culture model of
myotonic dystrophy and myotonic dystrophy patient tissue
68 ls are key players in both the human disease
myotonic dystrophy and the regulation of alternative spl
69 nic mouse model to show that derangements of
myotonic dystrophy are reversed by a morpholino antisens
70 This process is dysregulated in
myotonic dystrophy because MBNL proteins are sequestered
71 for a therapeutic strategy for treatment of
myotonic dystrophy by ablating or silencing expression o
72 sis might have a clinically relevant role in
myotonic dystrophy cardiac conduction defects and pathol
73 r generation of massive instabilities of the
myotonic dystrophy CTG.CAG sequences.
74 The genetic lesion in
myotonic dystrophy does not eliminate an essential muscl
75 hanism of cardiac and muscle degeneration in
myotonic dystrophy has been re-evaluated through a serie
76 Research on
myotonic dystrophy has led to the recognition of a novel
77 unction is a prominent cause of mortality in
myotonic dystrophy I (DM1), a disease where expanded CUG
78 in the development of RNA splice defects in
myotonic dystrophy I (DM1), we purified RNA-independent
79 s also responsible for the manifestations of
myotonic dystrophy in non-muscle tissues.
80 Myotonic dystrophy is a complex neuromuscular disorder a
81 Therapeutic development for
myotonic dystrophy is moving rapidly with the developmen
82 RECENT FINDINGS: RNA toxicity in
myotonic dystrophy is now associated with bi-directional
83 It now appears likely that
myotonic dystrophy is the first instance of a genetic di
84 In
myotonic dystrophy it is the RNA rather than protein pro
85 roteins HSP20, HSP25, alphaB-crystallin, and
myotonic dystrophy kinase binding protein (MKBP) may reg
86 MRCK (
myotonic dystrophy kinase-related Cdc42 binding kinase),
87 Myotonic dystrophy kinase-related Cdc42-binding kinase (
88 ation and invasion by binding and activating
myotonic dystrophy kinase-related CDC42-binding kinase a
89 Caspase-mediated cleavage of
myotonic dystrophy kinase-related CDC42-binding kinase-a
90 cell culture model of myotonic dystrophy and
myotonic dystrophy patient tissue, we have evidence that
91 L1, a splicing factor that is sequestered in
myotonic dystrophy patients by binding to expanded r(CUG
92 In human cells from
myotonic dystrophy patients, treatment with 5-aza-CdR st
93 e variant CaV1.1e in the skeletal muscles of
myotonic dystrophy patients.
94 sed Znf9 and Clc1 expression and rescued the
myotonic dystrophy phenotype in Znf9+/- mice.
95 e Znf9 haploinsufficiency contributes to the
myotonic dystrophy phenotype in Znf9+/- mice.
96 e basis for a new type of instability of the
myotonic dystrophy protein kinase (DMPK) gene in patient
97 Myotonic dystrophy protein kinase (DMPK), a muscle- and
98 G)n tract in the 3' UTR of the gene encoding
myotonic dystrophy protein kinase (DMPK), which results
99 ' untranslated region of the gene coding for
myotonic dystrophy protein kinase (DMPK).
100 Abnormal expression of human
myotonic dystrophy protein kinase (hDMPK) gene products
101 let-repeat expansion region from a truncated
myotonic dystrophy protein kinase transcript mimic in vi
102 -coil domain reminiscent of eukaryotic DMPK (
Myotonic Dystrophy Protein Kinase) family kinases such a
103 By this mechanism, effects of
myotonic dystrophy repeat expansions impact many differe
104 In both types of
myotonic dystrophy the expanded repeat is transcribed an
105 human samples from patients with congenital
myotonic dystrophy type 1 (CDM1) and spinal muscular atr
106 with Huntington's disease (CAG repeats) and
myotonic dystrophy type 1 (CTG repeats).
107 anded rCUG and rCAG repeat RNAs expressed in
myotonic dystrophy type 1 (DM1) and spinocerebellar atax
108 Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are cau
109 d CCUG are the underlying genetic causes for
myotonic dystrophy type 1 (DM1) and type 2 (DM2), respec
110 sequence is considered a causative agent of
myotonic dystrophy type 1 (DM1) because of its ability t
111 nscript (CUG(exp)) is the causative agent of
myotonic dystrophy type 1 (DM1) by sequestering musclebl
112 man spinocerebellar ataxia type 8 (SCA8) and
myotonic dystrophy type 1 (DM1) CAG expansion transcript
113 disease (HD) FEN1 +/- heterozygous mice and
myotonic dystrophy type 1 (DM1) FEN1 +/- heterozygous mi
114 A working hypothesis for the pathogenesis of
myotonic dystrophy type 1 (DM1) involves the aberrant se
115 Myotonic dystrophy type 1 (DM1) is a complex neuromuscul
116 The genetic basis of
myotonic dystrophy type 1 (DM1) is a CTG expansion in th
117 Myotonic dystrophy type 1 (DM1) is a CTG microsatellite
118 Myotonic Dystrophy type 1 (DM1) is a dominant neuromuscu
119 Myotonic dystrophy type 1 (DM1) is a dominantly inherite
120 Myotonic dystrophy type 1 (DM1) is a genetic disorder in
121 Myotonic dystrophy type 1 (DM1) is a genetic disorder li
122 Myotonic dystrophy type 1 (DM1) is a microsatellite expa
123 Myotonic dystrophy type 1 (DM1) is a neuromuscular disor
124 Myotonic dystrophy Type 1 (DM1) is a rare genetic diseas
125 Myotonic dystrophy type 1 (DM1) is a triplet repeating d
126 Myotonic dystrophy type 1 (DM1) is an autosomal dominant
127 Myotonic dystrophy type 1 (DM1) is an autosomal dominant
128 Myotonic dystrophy type 1 (DM1) is an inherited dominant
129 Myotonic dystrophy type 1 (DM1) is an RNA dominant disea
130 Myotonic dystrophy type 1 (DM1) is an RNA-dominant disea
131 Myotonic dystrophy type 1 (DM1) is associated with expan
132 Myotonic dystrophy type 1 (DM1) is caused by a CTG expan
133 Myotonic dystrophy type 1 (DM1) is caused by a CTG expan
134 Myotonic dystrophy type 1 (DM1) is caused by a CTG trinu
135 Myotonic dystrophy type 1 (DM1) is caused by a CUGn expa
136 Myotonic dystrophy type 1 (DM1) is caused by expansion o
137 Myotonic dystrophy type 1 (DM1) is caused by expansion o
138 Myotonic dystrophy type 1 (DM1) is caused by the expansi
139 Myotonic dystrophy type 1 (DM1) is one of the most varia
140 Myotonic dystrophy type 1 (DM1) is one such disorder tha
141 Myotonic dystrophy type 1 (DM1) is the most common form
142 ion hypothesis for the CTG expansion causing
myotonic dystrophy type 1 (DM1) located in the 3' noncod
143 The disease mechanism underlying
myotonic dystrophy type 1 (DM1) pathogenesis in skeletal
144 Accumulation of RNA CUG repeats in
myotonic dystrophy type 1 (DM1) patients leads to the in
145 In
myotonic dystrophy type 1 (DM1), dystrophia myotonica pr
146 splicing has become a molecular hallmark of
myotonic dystrophy type 1 (DM1), in which neonatal splic
147 ough cataract is a characteristic feature of
myotonic dystrophy type 1 (DM1), little is known of the
148 and GAA.TTC are integral to the etiology of
myotonic dystrophy type 1 (DM1), myotonic dystrophy type
149 Myotonic dystrophy type 1 (DM1), the most common form of
150 Myotonic dystrophy type 1 (DM1), the most common form of
151 Myotonic dystrophy type 1 (DM1), the most common muscula
152 Myotonic dystrophy type 1 (DM1), the most prevalent musc
153 In the hereditary degenerative disease
myotonic dystrophy type 1 (DM1), transcripts from the mu
154 In
myotonic dystrophy type 1 (DM1), triplet repeat expansio
155 date disease for RNAi therapy application is
myotonic dystrophy type 1 (DM1), which results from toxi
156 (hDMPK) gene products has been implicated in
myotonic dystrophy type 1 (DM1), yet the impact of distr
157 S; trisomy 21) and the dementia component of
myotonic dystrophy type 1 (DM1).
158 als with the inherited multisystemic disease
myotonic dystrophy type 1 (DM1).
159 ting symptom experienced by individuals with
myotonic dystrophy type 1 (DM1).
160 d pathogenic role of expanded CUG repeats in
myotonic dystrophy type 1 (DM1).
161 ocess is impaired in patients afflicted with
myotonic dystrophy type 1 (DM1).
162 rationally designed, multi-target agents for
myotonic dystrophy type 1 (DM1).
163 h are disrupted on loss of MBNL1 function in
myotonic dystrophy type 1 (DM1).
164 rophia myotonica protein kinase (DMPK) cause
myotonic dystrophy type 1 (DM1).
165 METHODS AND We selected 855 patients with
myotonic dystrophy type 1 (women, 51%; median age, 37 ye
166 cause dominantly inherited diseases such as
myotonic dystrophy type 1 and 2 (DM1/2), Huntington's di
167 Friedreich ataxia,
myotonic dystrophy type 1 and 3 forms of intellectual di
168 detected in mouse models with DCM, including
myotonic dystrophy type 1 and CELF1 overexpression model
169 s previously characterized in the context of
myotonic dystrophy type 1 and epithelial-to-mesenchymal
170 se sequences are involved in the etiology of
myotonic dystrophy type 1 and Friedreich's ataxia, respe
171 Myotonic dystrophy type 1 and type 2 (DM1 and DM2) are g
172 ress in elucidating the disease mechanism in
myotonic dystrophy type 1 and type 2.
173 Patients with adult
myotonic dystrophy type 1 are at high risk for arrhythmi
174 ng in the molecular and clinical features of
myotonic dystrophy type 1 as well as the screening of cl
175 epeats (CUG(exp)) are the causative agent of
myotonic dystrophy type 1 by sequestering MBNL1.
176 Up to one-third of patients with
myotonic dystrophy type 1 die suddenly.
177 Historically, patients with
myotonic dystrophy type 1 have not received the medical
178 Myotonic dystrophy type 1 is an autosomal dominant disor
179 Myotonic dystrophy type 1 is caused by the dysregulation
180 Previous studies have shown that
myotonic dystrophy type 1 is caused by the expansion of
181 The average age of death in
myotonic dystrophy type 1 is in the fifth decade.
182 Myotonic dystrophy type 1 is the most prevalent muscular
183 he size of the CTG expansion in the blood of
myotonic dystrophy type 1 patients is associated with to
184 n contrast to the CUG-RNA hairpins formed by
myotonic dystrophy type 1 repeats, we found no evidence
185 der than 18 years with genetically confirmed
myotonic dystrophy type 1 who were admitted to the Neuro
186 How this untranslated CTG expansion causes
myotonic dystrophy type 1(DM1) has been controversial.
187 Among patients with
myotonic dystrophy type 1, an invasive strategy was asso
188 nine had myotonic dystrophy type 2, one had
myotonic dystrophy type 1, and 17 had no identified muta
189 ples from individuals with one such disease,
myotonic dystrophy type 1, provides an opportunity to pa
190 f Friedreich ataxia, fragile X syndrome, and
myotonic dystrophy type 1, respectively.
191 dementia, fragile X tremor ataxia syndrome,
myotonic dystrophy type 1, spinocerebellar ataxia type 8
192 In
myotonic dystrophy type 1, the association between mutat
193 Similar to
myotonic dystrophy type 1, the poly(CUG)n RNA co-localiz
194 atrophy, amyotrophic lateral sclerosis, and
myotonic dystrophy type 1, were also reviewed.
195 Exon 2 is significantly reduced in
myotonic dystrophy type 1, whose symptoms include dement
196 uation, out of 1014 patients included in the
Myotonic Dystrophy Type 1-Heart Registry between January
197 ive diseases, such as Huntington disease and
myotonic dystrophy type 1.
198 tracts in the size range that is typical for
myotonic dystrophy type 1.
199 n abnormalities in the neuromuscular disease
myotonic dystrophy type 1.
200 06 adult patients with genetically confirmed
myotonic dystrophy type 1.
201 atrophy, amyotrophic lateral sclerosis, and
myotonic dystrophy type 1.
202 xpansions observed in human diseases such as
myotonic dystrophy type 1.
203 atrophy, amyotrophic lateral sclerosis, and
myotonic dystrophy type 1.
204 disorders, including Huntington disease and
myotonic dystrophy type 1.
205 er onset of symptoms and is less common than
myotonic dystrophy type 1.
206 en implicated in the cardiac pathogenesis of
myotonic dystrophy type 1.
207 myotonica protein kinase (DMPK) gene causes
myotonic dystrophy type 1.
208 able therapeutic target for the treatment of
myotonic dystrophy type 1.
209 ranslated CCTG expansion in an intron causes
myotonic dystrophy type 2 (DM2) have uncovered a new typ
210 Myotonic dystrophy type 2 (DM2) is a genetic disorder ch
211 Myotonic dystrophy type 2 (DM2) is a multisystemic disor
212 Myotonic dystrophy type 2 (DM2) is an incurable neuromus
213 Myotonic dystrophy type 2 (DM2) is caused by a CCTG expa
214 The recent discovery that
myotonic dystrophy type 2 (DM2) is caused by an untransl
215 Myotonic dystrophy type 2 (DM2) is caused by the extreme
216 ponsible for the massive expansions found in
myotonic dystrophy type 2 (DM2) patients.
217 At some sites of repeat expansion, e.g. the
myotonic dystrophy type 2 (DM2) tetranucleotide repeat e
218 ribed but untranslated CCTG expansion causes
myotonic dystrophy type 2 (DM2), along with other discov
219 oops in r(CCUG)(exp), the causative agent of
myotonic dystrophy type 2 (DM2), and are transformed int
220 etiology of myotonic dystrophy type 1 (DM1),
myotonic dystrophy type 2 (DM2), and Friedreich's ataxia
221 Recently, it was discovered that
myotonic dystrophy type 2 (proximal myotonic myopathy) i
222 ofilm formation in Staphylococcus aureus and
myotonic dystrophy type 2 in human, respectively.
223 Myotonic dystrophy type 2 is a genetic neuromuscular dis
224 Myotonic dystrophy type 2 is caused by a (CCTG)/(CCUG)n
225 not well understood and the role of ZNF9 in
myotonic dystrophy type 2 pathogenesis has not been full
226 In comparison,
myotonic dystrophy type 2 tends to cause a milder phenot
227 We explored this question using
myotonic dystrophy type 2, a multisystemic disease thoug
228 irst intron of the ZNF9 gene associated with
myotonic dystrophy type 2, form slipped-strand DNA struc
229 s, 34 had sodium channel mutations, nine had
myotonic dystrophy type 2, one had myotonic dystrophy ty
230 l mutations, chloride channel mutations, and
myotonic dystrophy type 2.
231 The neuromuscular disease
myotonic dystrophy type I (DM1) affects multiple organ s
232 Myotonic dystrophy type I (DM1) exhibits distinctive dis
233 Myotonic dystrophy type I (DM1) is a disabling multisyst
234 Myotonic dystrophy type I (DM1) is a disabling neuromusc
235 Myotonic dystrophy type I (DM1) is an RNA-mediated disea
236 They contain CUG repeats, relevant to
myotonic dystrophy type I, and CAG repeats associated wi
237 Molecular therapeutics for
myotonic dystrophy will probably bridge the translationa
238 ment for clinical screening of patients with
myotonic dystrophy with proactive and systematic managem
239 an skeletal actin (HSA)(LR) mice (a model of
myotonic dystrophy) of various ages.
240 ar ataxia, amyotrophic lateral sclerosis and
myotonic dystrophy) that involve mutations within the an
241 es of repeat instability and pathogenesis in
myotonic dystrophy, a neurological disorder caused by an
242 disease process raises the possibility that
myotonic dystrophy, among genetic disorders, may be unus
243 ts in Friedreich's ataxia, (CTG)n repeats in
myotonic dystrophy, and (CGG)n repeats in fragile X synd
244 , and 830 repeats of (CTG)n, which codes for
myotonic dystrophy, and 130 and 600 repeats of (CGG)n, w
245 sity in humans as may occur in, for example,
myotonic dystrophy, and possibly, the metabolically obes
246 leblind-like 1 (MBNL1), a gene implicated in
myotonic dystrophy, as a robust suppressor of multiorgan
247 s of European origin with PROMM and proximal
myotonic dystrophy, from geographically distinct populat
248 ated with multiple human diseases, including
myotonic dystrophy, Fuchs endothelial corneal dystrophy,
249 Many neurological diseases, including
myotonic dystrophy, Huntington's disease and several spi
250 AA)n, are associated with diseases including
myotonic dystrophy, Huntington's disease, fragile X and
251 r phenotype reflects many of the features of
myotonic dystrophy, including muscle histological morpho
252 3' UTR mRNA reproduced cardinal features of
myotonic dystrophy, including myotonia, cardiac conducti
253 In the best studied example,
myotonic dystrophy, it appears that the main pathogenic
254 phasis on key updates in muscular dystrophy,
myotonic dystrophy, mitochondrial myopathy, spinal muscu
255 hronic progressive external ophthalmoplegia,
myotonic dystrophy, neurofibromatosis type 2, and basal
256 d the pathobiology of disease mechanisms for
myotonic dystrophy, spinal muscular atrophy, and fragile
257 In
myotonic dystrophy, the expression of expanded CUG repea
258 In
myotonic dystrophy, the lack of properly localized MBNL1
259 rnative splicing and have been implicated in
myotonic dystrophy, the most common form of adult onset
260 muscleblind function and the pathogenesis of
myotonic dystrophy, we generated Drosophila incorporatin
261 eases, including spinal muscular atrophy and
myotonic dystrophy, where defects of splicing or alterna
262 operties of potential therapeutic agents for
myotonic dystrophy, which is caused by sequestration of
263 In mammalian cells, the
myotonic dystrophy-related Cdc42-binding kinase possesse
264 ed and studied with respect to their role in
myotonic dystrophy.
265 lular localization is a central component of
myotonic dystrophy.
266 ead to muscle degeneration disorders such as
myotonic dystrophy.
267 des to treat Duchenne muscular dystrophy and
myotonic dystrophy.
268 skeletal actin, long repeat) mouse model of
myotonic dystrophy.
269 ion disorders such as Huntington disease and
myotonic dystrophy.
270 gene causes the autosomal dominant disorder
myotonic dystrophy.
271 onduction delay, two predominant features of
myotonic dystrophy.
272 bias seen in expanded CTG triplet repeats in
myotonic dystrophy.
273 causes symptoms in the neuromuscular disease
myotonic dystrophy.
274 bset of the cardiac dysfunctions observed in
myotonic dystrophy.
275 ical diseases such as Huntington disease and
myotonic dystrophy.
276 a potential drug target for the treatment of
myotonic dystrophy.
277 sting a toxic RNA pathogenesis, as occurs in
myotonic dystrophy.
278 e diseases, including Huntington disease and
myotonic dystrophy.
279 uscle weakness and wasting characteristic of
myotonic dystrophy.
280 disease severity and therapeutic response in
myotonic dystrophy.
281 facioscapulohumeral muscular dystrophy, and
myotonic dystrophy.
282 ssues, including heart failure, diabetes, or
myotonic dystrophy.
283 hogenic feature of the neuromuscular disease
myotonic dystrophy.
284 rdiac electrophysiological disease; one with
myotonic dystrophy; and one with hypertrophic cardiomyop
285 Through breeding ADR
myotonic mice with mice harboring a MEF2-dependent repor
286 gnificantly reduced in skeletal muscles from
myotonic mice.
287 ctivity of MEF2 was dramatically enhanced in
myotonic muscles.
288 Myotonic muscular dystrophy (DM1) is the most common inh
289 Myotonic muscular dystrophy (MMD) is an autosomal-domina
290 Myotonic muscular dystrophy types 1 and 2 (DM1 and DM2,
291 In addition, the
myotonic mutations G200R and Y261C abolished potentiatio
292 variable presentation that included proximal
myotonic myopathy (PROMM) and type 2 DM (DM2) but withou
293 ypertrophic cardiomyopathy with dysrhythmia,
myotonic myopathy and hypotension, all distinctive muscl
294 red that myotonic dystrophy type 2 (proximal
myotonic myopathy) is also caused by a DNA expansion mut
295 suggesting this may contribute to the end of
myotonic runs.
296 on and fiber-type transformation observed in
myotonic skeletal muscles.
297 defects may increase excitability and cause
myotonic stiffness or may render fibres transiently inex
298 ks including myasthenia, periodic paralysis,
myotonic stiffness, seizures, headache, dyskinesia, or e
299 Myotonic syndromes include the non-dystrophic myotonias,
300 cal manifestations and molecular genetics of
myotonic syndromes, with particular emphasis on the myot