At a Glance
Myopathy;
ANO5-Related Muscle Diseases;
Alpha-B crystallinopathy
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Myopathy
ANO5-Related Muscle Diseases
Alpha-B crystallinopathy
Autosomal recessive centronuclear myopathy
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Bethlem myopathy 2
Brody myopathy
CHRNA1-Related Congenital Myasthenic Syndrome
Central core disease
Collagen VI-related myopathy
Congenital muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Congenital muscular dystrophy, LMNA-related
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
Congenital myasthenic syndrome
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 1B, fast-channel
Congenital myasthenic syndrome with tubular aggregates 1
Congenital myasthenic syndrome, acetazolamide-responsive
Congenital myopathy
Congenital myopathy with fiber type disproportion
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Danon disease
Distal myopathy
Distal myopathy, Tateyama type
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Endplate acetylcholinesterase deficiency
Familial infantile myasthenia
Inclusion body myopathy 2
Inclusion body myopathy 3
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2
Laminin alpha 2-related dystrophy
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy, type 1A
Limb-girdle muscular dystrophy, type 1B
Limb-girdle muscular dystrophy, type 1C
Limb-girdle muscular dystrophy, type 1E
Limb-girdle muscular dystrophy, type 1G
Limb-girdle muscular dystrophy, type 2A
Limb-girdle muscular dystrophy, type 2B
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2F
Limb-girdle muscular dystrophy, type 2J
Limb-girdle muscular dystrophy, type 2L
Limb-girdle muscular dystrophy, type 2Q
Limb-girdle muscular dystrophy, type 2S
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia, susceptibility to, 1
Merosin deficient congenital muscular dystrophy
Miyoshi muscular dystrophy 1
Multiminicore Disease
Muscular dystrophy
Muscular dystrophy, congenital, due to ITGA7 deficiency
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
Muscular dystrophy, congenital, megaconial type
Muscular dystrophy, limb-girdle, type 2W
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
Myasthenia, limb-girdle, familial
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 14
Myasthenic syndrome, congenital, 15
Myasthenic syndrome, congenital, 17
Myasthenic syndrome, congenital, 18
Myasthenic syndrome, congenital, 2a, slow-channel
Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 3a, slow-channel
Myasthenic syndrome, congenital, 3b, fast-channel
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 4b, fast-channel
Myasthenic syndrome, congenital, 8
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital
Myofibrillar myopathy
Myofibrillar myopathy 1
Myofibrillar myopathy, BAG3-related
Myofibrillar myopathy, ZASP-related
Myofibrillar myopathy, filamin C-related
Myopathy with postural muscle atrophy, X-linked
Myopathy, X-linked, with excessive autophagy
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Myopathy, autophagic vacuolar, infantile-onset
Myopathy, centronuclear
Myopathy, centronuclear, 1
Myopathy, centronuclear, 3
Myopathy, centronuclear, 4
Myopathy, congenital, compton-north
Myopathy, distal, 1
Myopathy, distal, 2
Myopathy, distal, 4
Myopathy, distal, with anterior tibial onset
Myopathy, early-onset, with fatal cardiomyopathy
Myopathy, myosin storage, autosomal recessive
Myopathy, reducing body, X-linked, childhood-onset
Myopathy, reducing body, X-linked, early-onset, severe
Myosin storage myopathy
Myotilinopathy
Myotonia congenita
Native American myopathy
Nemaline myopathy
Nemaline myopathy 1
Nemaline myopathy 10
Nemaline myopathy 2
Nemaline myopathy 3
Nemaline myopathy 4
Nemaline myopathy 5
Nemaline myopathy 6
Nemaline myopathy 7
Nemaline myopathy 8
Nemaline myopathy 9
Neutral lipid storage disease with myopathy
Nonaka myopathy
Scapuloperoneal myopathy, MYH7-related
Scapuloperoneal myopathy, X-linked dominant
Severe X-linked myotubular myopathy
Spheroid body myopathy
Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 2
Walker-Warburg congenital muscular dystrophy
ACTA1 (1q42.13);
AGRN (1p36.33);
ALG14 (1p21.3);
ALG2 (9q22.33);
ANO5 (11p14.3)
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Conditions
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Total conditions: 141
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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Test method
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