encyclopedia of medical concepts
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Muscular Dystrophies
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Definition
: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
GEN: prefer specifics; do not confuse with MYOTONIC DYSTROPHY
See Also
Mice, Inbred mdx
Examples
Distal Myopathies
;
Glycogen Storage Disease Type VII
;
Muscular Dystrophies, Limb-Girdle
;
Muscular Dystrophy, Duchenne
;
Muscular Dystrophy, Emery-Dreifuss
;
Muscular Dystrophy, Facioscapulohumeral
;
Muscular Dystrophy, Oculopharyngeal
;
Myotonic Dystrophy
Other names
Myodystrophies; Myodystrophicas; Dystrophy, Muscular; Dystrophies, Muscular; Myodystrophy; Myodystrophica; Muscular Dystrophy
Substance
CAS Registry & name
Categories
Source
Filaminopathy, autosomal dominant
0
*Muscular Dystrophies.
Bassoe syndrome
0
*Cataract/congenital
*Hypogonadism
*Muscular Dystrophies.
Scleroatonic muscular dystrophy
0
*Muscular Dystrophies
*Sclerosis.
Muscular dystrophy, congenital, infantile with cataract and hypogonadism
0
*Cataract
*Hypogonadism
*Muscular Dystrophies/congenital.
Muscular dystrophy congenital, merosin negative
0
*Muscular Dystrophies.
Rigid spine syndrome
0
*Scoliosis
*Muscular Dystrophies
Mallory Bodies/pathology.
Bethlem myopathy
0
*Contracture
*Muscular Dystrophies/congenital.
Fcmd protein, mouse
0
*Proteins
Muscular Dystrophies.
Six5 protein, mouse
0
*Homeodomain Proteins
Muscular Dystrophies.
Frg1 protein, mouse
0
*Proteins
Muscular Dystrophies.
LARGE protein, human
EC 2.4.1.-
*N-Acetylglucosaminyltransferases
Muscular Dystrophies.
Proc Natl Acad Sci U S A 1999 Jan 19;96(2):598-603
DYSF protein, human
0
*Membrane Proteins
*Muscle Proteins
Muscular Dystrophies.
Nat Genet 1998 Sep;20(1):31-6
SIX5 protein, human
0
*Homeodomain Proteins
Muscular Dystrophies.
Hum Mol Genet 1997 May;6(5):651-7
FRG1 protein, human
0
*Nuclear Proteins
Muscular Dystrophies.
Hum Mol Genet 1996 May;5(5):581-90
emerin
0
*Membrane Proteins
*Nuclear Proteins
Muscular Dystrophies
Muscular Dystrophy, Emery-Dreifuss.
Nat Genet 1994 Dec;8(4):323-7