Description |
OMIM Number |
BETHLEM MYOPATHY |
158810 |
CENTRAL CORE DISEASE OF MUSCLE |
117000 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1; EDMD1 |
310300 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY AUTOSOMAL DOMINANT; EDMD2 |
181350 |
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD |
603034 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 |
158900 |
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
145900 |
MUSCULAR DYSTROPHY CONGENITAL MEROSIN-DEFICIENT 1A; MDC1A |
607855 |
MUSCULAR DYSTROPHY DUCHENNE TYPE; DMD |
310200 |
MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2A; LGMD2A |
253600 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B |
253601 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 1; MDDGA1 |
236670 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 4; MDDGA4 |
253800 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 |
253280 |
MYASTHENIA GRAVIS; MG |
254200 |
MYASTHENIC SYNDROME CONGENITAL ASSOCIATED WITH EPISODIC APNEA |
254210 |
MYOPATHY CENTRONUCLEAR 1; CNM1 |
160150 |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
255310 |
MYOTUBULAR MYOPATHY 1; MTM1 |
310400 |
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 |
256030 |
NEMALINE MYOPATHY 5; NEM5 |
605355 |
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE I; HMN1 |
182960 |
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 |
602771 |
SPINAL MUSCULAR ATROPHY III; SMA III |
253400 |
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD |
254090 |