Congenital Muscle Diseases
|
Records Return:
(26)
|
|
|
|
Description | Omim Number | Sample Count |
BETHLEM MYOPATHY 1; BTHLM1 | 158810 | 5 |
CENTRAL CORE DISEASE OF MUSCLE; CCD | 117000 | 7 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 | 310300 | 2 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 | 181350 | 3 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | 158900 | 105 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | 158900 | 1 |
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | 145900 | 1 |
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | 607855 | 34 |
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | 310200 | 72 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 | 253600 | 4 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2 | 253601 | 2 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 | 236670 | 3 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 | 253280 | 3 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 | 253800 | 2 |
MYASTHENIA GRAVIS; MG | 254200 | 8 |
MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 | 603034 | 1 |
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 | 254210 | 1 |
MYOPATHY, CENTRONUCLEAR, 1; CNM1 | 160150 | 7 |
MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX | 310400 | 13 |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD | 255310 | 1 |
|
|
|