Also known as:
CHAT congenital myasthenic syndrome, CMS Ia2, CMS Ia2, formerly, CMS w/episodic apnea, CMS-ea, CMS1A, CMS1A2, CMS1A2, formerly, CMS6, CMSEA, Cms Ia2, Cms Ia2, formerly, FIM, FIM, formerly, FIMG2, FIMG2 (formerly), FIMG2, formerly, congenital myasthenic syndrome 6, congenital myasthenic syndrome 6, presynaptic, congenital myasthenic syndrome caused by mutation in CHAT, congenital myasthenic syndrome type 1a, congenital myasthenic syndrome type 6, congenital myasthenic syndrome type Ia, congenital myasthenic syndrome type Ia2, congenital myasthenic syndrome type Ia2, formerly, congenital myasthenic syndrome with episodic apnea, congenital presynaptic myasthenic syndrome associated with episodic apnea, familial infantile myasthenia, familial infantile myasthenia gravis 2, myasthenia familial infantile, myasthenia gravis familial infantile 2 (formerly), myasthenia gravis, familial infantile, 2, myasthenia gravis, familial infantile, 2, formerly, myasthenia, familial infantile, myasthenia, familial infantile, formerly, myasthenic syndrome congenital associated with episodic apnea, myasthenic syndrome, congenital, 6, presynaptic, myasthenic syndrome, congenital, associated with episodic apnea, myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, presynaptic congenital myasthenic syndrome 6
Also known as:
CMS7, SYT2 congenital myasthenic syndrome, congenital myasthenic syndrome 7 presynaptic, congenital myasthenic syndrome caused by mutation in SYT2, congenital myasthenic syndrome type 7, myasthenic syndrome, congenital, 7, presynaptic, myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
Also known as:
AGRN congenital myasthenic syndrome, CMS8, congenital myasthenic syndrome 8, congenital myasthenic syndrome 8 with pre- and postsynaptic defects, congenital myasthenic syndrome caused by mutation in AGRN, congenital myasthenic syndrome due to agrin deficiency, congenital myasthenic syndrome type 8, myasthenic syndrome, congenital, 8, myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, myasthenic syndrome, congenital, due to agrin deficiency, myasthenic syndrome, congenital, type 8, myasthenic syndrome, congenital, with Pre- and postsynaptic defects
Also known as:
CMS9, MUSK congenital myasthenic syndrome, congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency, congenital myasthenic syndrome caused by mutation in MUSK, congenital myasthenic syndrome type 9, myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Also known as:
CMS-TA, myasthenic syndrome, congenital, with tubular aggregates
Also known as:
MSMA, MYH7-related late-onset SPMD, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related late-onset scapuloperoneal syndrome, MYH7-related scapuloperoneal myopathy, SPMD, SPMM, autosomal dominant myosin storage myopathy, myopathy with lysis of type 1 myofibrils, myopathy, hyaline body, autosomal dominant, myopathy, myosin storage, autosomal dominant, scapuloperoneal muscular dystrophy, scapuloperoneal myopathy, MYH7-related, scapuloperoneal syndrome, myopathic type
Also known as:
CNM4, centronuclear myopathy 4, centronuclear myopathy type 4, myopathy, centronuclear, 4, myopathy, centronuclear, type 4
Also known as:
congenital myopathy with myasthenic-like onset
Also known as:
myopathy, congenital, with fast-twitch (type II) fiber atrophy, myopathy, congenital, with fast-twitch (type II) fibre atrophy