myotonic dystrophy type 2
Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
MONDO:0016107
myotonic dystrophy
is_a
CNBP myotonic dystrophy
exact
DM2
related
PROMM
related
dystrophia myotonica type 2
related
myotonic dystrophy 2
related
myotonic dystrophy caused by mutation in CNBP
exact
myotonic dystrophy type 2
exact
proximal myotonic dystrophy
exact
proximal myotonic myopathy
exact
ricker disease
exact
ricker syndrome
exact
SPAC13D6.02c