Myotonic Dystrophy
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
推出的年份: 2000(1966)
树号: C05.651.534.500.500, C05.651.662.750, C10.574.500.547, C10.668.491.175.500.500, C10.668.491.606.750, C16.320.400.542, C16.320.577.500
MeSH 单一 ID: D009223
进入的组:
Dystrophies, Myotonic
Dystrophy, Myotonic
Myotonic Dystrophies
Dystrophia Myotonica 1
Myotonia Atrophica
Atrophica, Myotonia
Atrophicas, Myotonia
Myotonia Atrophicas
Steinert's Disease
Disease, Steinert's
Steinerts Disease
Myotonic Dystrophy 1
Steinert Disease
Disease, Steinert
Steinert Myotonic Dystrophy
Dystrophy, Steinert Myotonic
Myotonic Dystrophy, Steinert
Dystrophia Myotonica
Dystrophia Myotonicas
Myotonica, Dystrophia
Myotonicas, Dystrophia
Myotonia Dystrophica
Dystrophica, Myotonia
Dystrophicas, Myotonia
Myotonia Dystrophicas
Myotonic Dystrophy, Congenital
Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophies
Dystrophies, Congenital Myotonic
Dystrophy, Congenital Myotonic
Myotonic Dystrophies, Congenital
Myotonic Dystrophy 2
Ricker Syndrome
Syndrome, Ricker
PROMM (Proximal Myotonic Myopathy)
PROMMs (Proximal Myotonic Myopathy)
Proximal Myotonic Myopathy
Dystrophia Myotonica 2
Dystrophia Myotonica 2s
Myotonic Myopathy, Proximal
Myopathies, Proximal Myotonic
Myopathy, Proximal Myotonic
Myotonic Myopathies, Proximal
Proximal Myotonic Myopathies
留言 (0)