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Myotonic Dystrophy Type 1: Frequency Of Ophthalmologic Findings
(Assoc Arquivos Neuro- PsiquiatriaSão Paulo, 2016)
MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
(2019-07)
Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found
rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat ...
Anestesia para colecistectomía videolaparoscópica en paciente portador de enfermedad de Steinert. Relato de caso y revisiõn de la literatura
(2010-03-01)
BACKGROUND AND OBJECTIVES: Myotonic dystrophies are autosomal dominant neuromuscular diseases. Among them, myotonic dystrophy type 1 (MD1), or Steinert disease, is the most common in adults, and besides muscular involvement ...
Anestesia para colecistectomía videolaparoscópica en paciente portador de enfermedad de Steinert. Relato de caso y revisiõn de la literatura
(2010-03-01)
BACKGROUND AND OBJECTIVES: Myotonic dystrophies are autosomal dominant neuromuscular diseases. Among them, myotonic dystrophy type 1 (MD1), or Steinert disease, is the most common in adults, and besides muscular involvement ...
Effects of respiratory muscle training on respiratory muscle strength and heart rate variability in myotonic dystrophy patients type 1
(Journal of Respiratory and CardioVascular Physical Therapy, 2023)
Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent
(2021)
Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between
mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) ...
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1
(2019-05)
Genotype-to-phenotype correlation studies in myotonic dystrophy type 1 (DM1) have been confounded by the age-dependent, tissue-specific and expansion-biased features of somatic mosaicism of the expanded CTG repeat. Previously, ...
Myotonic Dystrophy Type 1: Frequency Of Ophthalmologic FindingsDistrofia Miotônica Tipo 1: Frequência Dos Achados Oftalmológicos
(Associacao Arquivos de Neuro-Psiquiatria, 2016)