Genomics Precision Diagnostic > Neurology Precision Panel > Congenital Muscular Dystrophies and Myopathies Precision Panel

Congenital Muscular Dystrophies and Myopathies Precision Panel

Congenital Muscular Dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes responsible for normal muscle function, resulting in progressive muscle weakness without a central or peripheral nerve abnormality.

Overview

Congenital Muscular Dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes responsible for normal muscle function, resulting in progressive muscle weakness without a central or peripheral nerve abnormality. The genes responsible for these diseases are specific muscle proteins that allow for proper contraction and relaxation of the muscles. Muscular dystrophies are classified according to the clinical phenotype, pathology and mode of inheritance. Inheritance pattern includes X-lined, autosomal recessive and autosomal dominant. Some examples include:
- X-linked: Duchenne, Becker, Emery-Dreifuss
- Autosomal dominant: Facioscapulohumeral, distal, ocular, oculopharyngeal
- Autosomgal recessive: Limb-girdle form
Congenital Myopathies are a group of genetic diseases that predominantly affect the muscles. The typical features can be found in neonates and infants, children or even adults. The classification of congenital myopathies follows a genetic criterion. However, the genotype-phenotype correlation remains variable and overlapping with congenital muscular dystrophies. Some examples of congenital myopathies include Nemaline Myopathy, Central Core Disease and Multiminicore Disease amongst others. Both congenital myopathies and muscular dystrophies carry a high risk of developing restrictive lung disease and orthopedic deformities.
The Igenomix Congenital Muscular Dystrophies and Myopathies Precision Panel can be used as a tool for an accurate diagnosis and differential diagnosis of muscle weakness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved, and their high or intermediate penetrance.

Indication

The Igenomix Congenital Muscular Dystrophies and Myopathies Precision Panel is used for patients with a clinical suspicion or diagnosis with or without the following symptoms:
- Early-onset muscle weakness
- Decreased muscle tone
- Hypoactive deep tendon reflexes
- Delayed motor milestones
- Muscle atrophy
- Abnormally fixed joints
- Muscle deformities and contractures
- Family history of congenital myopathy or muscle dystrophy

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment involving a multidisciplinary team focusing on intensive physiotherapy and rehabilitation, bracing and surgical interventions and medical care to prevent complications and improve symptoms.
Risk assessment of asymptomatic family members according to the mode of inheritance via genetic counselling.
Improvement of delineation of genotype-phenotype correlation given the variability of severity and course of disease.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABHD5*	Chanarin-Dorfman Syndrome, Neutral Lipid Storage Disease, Ichthyosis	AR	99.98	37 of 37
*ACAD9*	Acyl-Coa Dehydrogenase Deficiency	AR	100	62 of 62
*ACADVL*	Acyl-Coa Dehydrogenase Deficiency	AR	100	329 of 329
*ACTA1*	Multiple Myopathy Types, Rigid Spine Syndrome	AD,AR	100	224 of 224
*ACTN2*	Cardiomyopathy, Left Ventricular Noncompaction, Myopathy	AD	100	56 of 56
*ADSS1*	Myopathy	AR	86.52	3 of 3
*AGL*	Glycogen Storage Disease, Glycogen Debranching Enzyme Deficiency	AR	100	253 of 253
*ANO5*	Gnathodiaphyseal Dysplasia, Miyoshi Muscular Dystrophy , Limb-Girdle Muscular Dystrophy, Distal Anoctaminopathy	AD,AR	99.78	171 of 173
*ATP2A1*	Brody Myopathy	AR	100	20 of 20
*B3GALNT2*	Muscular Dystrophy- Dystroglycanopathy, Intellectual Disability, Muscle-Eye- Brain Disease, Walker-Warburg Syndrome	AR	97.14	17 of 17
*B4GAT1*	Muscular Dystrophy- Dystroglycanopathy, Walker- Warburg Syndrome	AR	–	–
*BAG3*	Cardiomyopathy , Myopathy	AD	100	83 of 85
*BICD2*	Spinal Muscular Atrophy	AD	99.94	39 of 39
*BIN1*	Myopathy	AR	100	20 of 20
*BVES*	Limb Girdle Muscular Dystrophy	AR	99.47	2 of 2
*CACNA1H*	Hyperaldosteronism, Epilepsy	AD	98.05	71 of 71
*CACNA1S*	Hypokalemic And Thyrotoxic Periodic Paralysis, Hyperthermia	AD	100	64 of 64
*CAPN3*	Limb Girdle Muscular Dystrophy	AD,AR	100	503 of 505
*CASQ1*	Myopathy, Tubular Aggregate And Vacuolar Myopathy,	AD	100	6 of 6
*CAV3*	Cardiomyopathy, Creatine Phosphokinase, Long Qt Syndrome, Myopathy, Rippling Muscle Disease, Romano- Ward Syndrome	AD	100	50 of 50
*CAVIN1*	Berardinelli- Seip Lipodystrophy	AR	99.82	–
*CCDC78*	Myopathy	AD	100	5 of 5
*CFL2*	Nemaline Myopathy	AR	99.98	9 of 9
*CHKB*	Muscular Dystrophy	AR,MI	100	29 of 29
*CLCN1*	Myotonia Congenita, Thomsen And Becker Disease	AD,AR
*CNTN1*	Myopathy	AR	100	1 of 1
*COL12A1*	Bethlem Myopathy, Ullrich Muscular Dystrophy, Ehlers-Danlos Syndrome	AD	99.97	18 of 19
*COL4A1*	Angiopathy, Nephropathy, Aneurysms, Muscle Cramps, Microangiopathy, Leukoencephalopathy, Porencephaly, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COL4A2*	Porencephaly	AD	99.93	28 of 28
*COL6A1*	Bethlem Myopathy, Ullrich Muscular Dystrophy	AD,AR	99.96	182 of 186
*COL6A2*	Bethlem Myopathy, Myosclerosis, Ullrich Muscular Dystrophy	AD,AR	100	223 of 225
*COL6A3*	Bethlem Myopathy, Dystonia, Ullrich Muscular Dystrophy	AD,AR	99.63	232 of 232
*COX6A2*	Mitochondrial Complex IV Deficiendy, Cardioence- phalomyopathy	–	100	2 of 2
*CPT2*	Carnitine Palmitoyl Transferase Ii Deficiency, Encephalopathy	AD,AR	99.99	116 of 116
*CRPPA*	Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome	AR	97.69	–
*CRYAB*	Alpha-B Crystallinopathy, Cardiomyopathy, Cataract, Myopathy	AD,AR	100	30 of 30
*DAG1*	Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Multicystic Leucodystrophy, Walker-Warburg Syndrome	AR	99.98	9 of 9
*DES*	Cardiomyopathy, Myopathy, Scapuloperoneal Syndrome, Desminopathy	AD,AR	99.97	133 of 134
*DMD*	Cardiomyopathy, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Intellectual Disability	X,XR,G	99.96	–
*DNA2*	Ophthalmoplegia, Seckel Syndrome, Mitochondrial Dna Deletion Syndrome	AD,AR	99.74	16 of 16
*DNAJB6*	Limb Girdle Muscular Dystrophy	AD	100	30 of 30
*DNM2*	Charcot-Marie- Tooth Disease, Contracture Syndrome, Myopathy	AD,AR	99	57 of 57
*DPM1*	Congenital Disorder Of Glycosylation	AR	97.25	9 of 9
*DPM2*	Congenital Disorder Of Glycosylation, Congenital Muscular Dystrophy, Intellectual Disability, Epilepsy	AR	99.87	2 of 2
*DPM3*	Congenital Disorder Of Glycosylation, Muscular Dystrophy- Dystroglycanopathy	AR	100	4 of 4
*DUX4*	Facioscapulohumeral Dystrophy	–	0	–
*DYSF*	Miyoshi Myopathy, Limb Girdle Muscular Dystrophy	AR	100	604 of 606
*EMD*	Emery-Dreifuss Muscular Dystrophy	X,XR,G	99.92	–
*ENO3*	Glycogen Storage Disease	AR	100	7 of 7
*ETFA*	Acyl-Coa Dehydrogenase Deficiency	AR	92.33	32 of 32
*ETFB*	Acyl-Coa Dehydrogenase Deficiency	AR	100	21 of 21
*ETFDH*	Acyl-Coa Dehydrogenase Deficiency	AR	100	221 of 222
*FDX2*	Mitochondrial Myopathy, Optic Atrophy, Leukoencephalopathy	AR,MI	100	–
*FHL1*	Myopathy, Uruguay Faciocardio- musculoskeletal Syndrome, Muscular Dystrophy	X,XR,XD,G	99.98	–
*FKBP14*	Ehlers-Danlos Syndrome, Progressive Kyphoscoliosis, Myopathy, Hearing Loss	AR	99.98	7 of 8
*FKRP*	Muscular Dystrophy- Dystroglycanopathy, Limb-Girdle Muscular Dystrophy, Intellectual Disability, Muscle-Eye- Brain Disease, Walker-Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardiomyopathy, Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	98	54 of 56
*FLAD1*	Lipid Storage Myopathy	AR	97.13	13 of 14
*FLNC*	Cardiomyopathy, Filaminopathy, Myopathy	AD	100	185 of 186
*FXR1*	Myopathy, Respiratory Insufficiency, Bone Fractures	AR	99.93	1 of 1
*GAA*	Glycogen Storage Disease	AR	100	623 of 624
*GBE1*	Glycogen Storage Disease, Polyglucosan Body Disease	AR	99.95	71 of 74
*GFER*	Myopathy, Cataract, Hearing Loss, Developmental Delay	AR	99.89	6 of 6
*GMPPB*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Intellectual Disability, Myasthenic Syndromes, Glycosylation Defect, Muscle- Eye-Brain Disease	AR	99.95	53 of 53
*GNE*	Nonaka Myopathy, Sialuria, Gne Myopathy, Sialuria	AD,AR	99.97	248 of 253
*GOLGA2*	Smith-Mccort Dysplasia, Mucolipidosis, Vohwinkel Syndrome, Dyggve-Melchior- Clausen Disease, Encephalopathy	–	99.89	3 of 3
*GOSR2*	Epilepsy	AR	88.39	6 of 6
*GYG1*	Glycogen Storage Disease, Polyglucosan Body Myopathy, Cardiomyopathy	AR	100	17 of 18
*GYS1*	Glycogen Storage Disease	AR	99.69	4 of 4
*HACD1*	Fiber-Type Disproportion Myopathy	–	99.5	–
*HNRNPA1*	Amyotrophic Lateral Sclerosis, Inclusion Body Myopathy, Paget Disease, Frontotemporal Dementia	AD	99.98	13 of 13
*HNRNPA2B1*	Inclusion Body Myopathy, Paget Disease, Frontotemporal Dementia	–	99.98	5 of 6
*HNRNPDL*	Limb-Girdle Muscular Dystrophy	AD	96.58	2 of 2
*HRAS*	Bladder Cancer, Costello Syndrome, Epidermal Nevus, Giant Pigmented Hairy Nevus, Schimmelpenning- Feuerstein-Mims Syndrome, Thyroid Cancer, Linear Nevus Sebaceus Syndrome	AD	100	34 of 34
*HSPB8*	Charcot-Marie- Tooth Disease, Neuronopathy	AD	97.59	9 of 9
*INPP5K*	Muscular Dystrophy, Cataracts, Intellectual Disability, Marinesco- Sjogren Syndrome	AR	92	10 of 10
*ISCU*	Myopathy	AR	99.94	3 of 3
*ITGA7*	Muscular Dystrophy, Integrin Alpha-7 Deficiency, Fiber-Type Disproportion Myopathy	AR	99.99	10 of 10
*KBTBD13*	Nemaline Myopathy	AD	99.66	15 of 15
*KLHL40*	Nemaline Myopathy	AR	99.98	26 of 26
*KLHL41*	Nemaline Myopathy	AR	99.92	8 of 8
*KLHL9*	Distal Myopathy	–	99.97	4 of 4
KY	Myopathy, Kyphoscoliosis, Lateral Tongue Atrophy, Spastic Paraplegia	AR	99.95	3 of 3
*LAMA2*	Limb Girdle Muscular Dystrophy	AR	100	363 of 377
*LAMP2*	Danon Disease, Glycogen Storage Disease	X,XD,G	99.96	–
*LARGE1*	Muscular Dystrophy- Dystroglycanopathy, Intellectual Disability , Muscle-Eye- Brain Disease, Walker-Warburg Syndrome	AR	100	–
*LDB3*	Cardiomyopathy, Miofibrillar Myopathy	AD	100	60 of 60
*LDHA*	Glycogen Storage Disease	AR	99.38	9 of 9
*LIMS2*	Limb Girdle Muscular Dystrophy	AR	94.23	4 of 4
*LMNA*	Cardiomyopathy, Charcot-Marie- Tooth Disease, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Malouf Syndrome, Mandibuloacral Dysplasia, Restrictive Dermopathy, Werner Syndrome, Lipodystrophic Laminopathy, Hypergonadotropic Hypogonadism	AD,AR	100	619 of 620
*LMOD3*	Nemaline Myopathy	AR	98.68	23 of 26
*LPIN1*	Rhabdomyolysis	AR	99.98	31 of 31
*MAP3K20*	Fiber-Type Disproportion Myopathy, Split-Foot Malformation, Mesoaxial Polydactyly	AR	99.68	–
*MATR3*	Amyotrophic Lateral Sclerosis, Vocal Cord And Pharyngeal Distal Myopathy	AD	99.98	21 of 21
*MEGF10*	Myopathy, Respiratory Distress, Dysphagia , Areflexia	AR	99.96	20 of 21
*MICU1*	Myopathy, Extrapyramidal Signs	AR	99.83	7 of 8
*MME*	Charcot-Marie- Tooth Disease, Spinocerebellar Ataxia, Membranous Nephropathy, Fetomaternal Anti- Neutral Endopeptidase Alloimmunization	AD,AR	100	33 of 33
*MMEL1*	Primary Biliary Cholangitis	–	100	–
*MPDU1*	Congenital Disorder Of Glycosylation	AR	100	7 of 7
*MSTO1*	Myopathy, Ataxia, Pigmentary Retinopathy	AD,AR	88.73	15 of 19
*MTM1*	Myotubular Myopathy, Centronuclear Myopathy, Abnormal Genitalia	X,XR,G	99.98	–
*MTMR14*	Centronuclear Myopathy	AD	100	2 of 2
*MYBPC1*	Arthrogryposis, Contracture Syndrome, Myopathy, Digitotalar Dysmorphism	AD,AR	100	13 of 13
*MYBPC3*	Cardiomyopathy, Left Ventricular Noncompaction	AD,AR	99.95	1072 of 1079
*MYF6*	Centronuclear Myopathy	–	100	2 of 2
*MYH2*	Myopathy	AD,AR	99.98	31 of 31
*MYH7*	Cardiomyopathy, Ebstein Malformation, Scapuloperoneal Muscular Dystrophy	AD,AR	99.95	1053 of 1054
*MYL1*	Myopathy	AR	100	2 of 2
*MYL2*	Cardiomyopathy, Fiber-Type Disproportion Myopathy	AD	100	67 of 67
*MYMK*	Carey-Fineman– Ziter Syndrome	AR	100	–
*MYO18B*	Klippel-Feil Syndrome, Myopathy, Facial Dysmorphism	AR	99.39	8 of 9
*MYOD1*	Myopathy, Diaphragmatic Defects, Respiratory Insufficiency, Dysmorphic Facies, Akinesia Deformation Sequence	AR	99.97	6 of 6
*MYOT*	Myopathy, Myotilinopathy, Limb-Girdle Muscular Dystrophy	AD	100	17 of 17
*MYPN*	Cardiomyopathy, Nemaline Myopathy , Cap Myopathy	AD,AR	99.94	49 of 49
*NEB*	Nemaline Myopathy, Distal Nebulin Myopathy	AR	86.77	304 of 339
*ORAI1*	Immunodeficiency, Stormorken- Sjaastad-Langslet Syndrome, Tubular Aggregate Myopathy	AD,AR	91.93	20 of 22
*PABPN1*	Oculopharyngeal Muscular Dystrophy	AD	89.43	0 of 6
*PAX7*	Myopathy, Scoliosis, Rhabdomyosarcoma	AR	100	17 of 17
*PFKM*	Glycogen Storage Disease, Muscle Phosphofructokinase Deficiency	AR	99.97	27 of 27
*PGAM2*	Phosphoglycerate Mutase Deficiency	AR	100	11 of 11
*PGK1*	Phosphoglycerate Kinase 1 Deficiency, Glycogen Storage Disease	X,XR,G	100	–
*PGM1*	Congenital Disorder Of Glycosylation	AR	99.96	38 of 40
*PHKA1*	Muscle Glycogenosis	X,XR,G	99.97	–
*PLEC*	Epidermolysis Bullosa, Pyloric Atresia, Limb Girdle Muscular Dystrophy, Nail Dystrophy, Aplasia Cutis Congenita	AD,AR	99.98	113 of 113
*PNPLA2*	Neutral Lipid Storage Disease, Myopathy	AR	100	53 of 53
*PNPLA8*	Mitochondrial Myopathy, Lactic Acidosis	AR	99.13	6 of 6
*POGLUT1*	Dowling-Degos Disease, Limb Girdle Muscular Dystrophy	AD,AR	99.94	27 of 27
*POLG*	Mitochondrial Dna Depletion Syndrome, Ophthalmoplegia, Neuropathy, Dysarthria, Alpers- Huttenlocher Syndrome, Mitochondrial Neurogastrointestinal Encephalomyopathy, Mitochondrial Ataxia Syndrome	AD,AR	99.92	325 of 326
*POMGNT1*	Muscular Dystrophy- Dystroglycanopathy, Retinitis Pigmentosa , Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.91	82 of 83
*POMGNT2*	Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome	AR	100	10 of 10
*POMK*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Walker- Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	100	105 of 105
*POMT2*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	100	74 of 74
*POPDC3*	Limb Girdle Muscular Dystrophy	AR	99.5	3 of 3
*PRKAG2*	Cardiomyopathy, Glycogen Storage Disease Of Heart, Wolff-Parkinson- White Syndrome	AD	99.98	61 of 61
*PUS1*	Mitochondrial Myopathy, Sideroblastic Anemia	AR	99.58	13 of 14
*PYGM*	Glycogen Storage Disease, Glycogen Phosphorylase Deficiency	AR	100	167 of 169
*PYROXD1*	Myopathy	AR	99.92	7 of 8
*RBCK1*	Polyglucosan Body Myopathy , Immunodeficiency	AR	100	13 of 13
*RRM2B*	Mitochondrial Dna Depletion Syndrome, Ophthalmoplegia, Kearns-Sayre Syndrome, Neurogastrointestinal Encephalomyopathy	AD,AR	92.38	46 of 46
*RXYLT1*	Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome	AR	99.46	–
*RYR1*	Central Core Disease Of Muscle, Hyperthermia, Ophthalmoplegia, Fiber-Type Disproportion Myopathy, Centronuclear Myopathy, Multiminicore Disease	AD,AR	97.63	733 of 746
*RYR3*	Central Core Myopathy, Capillary Malformations, Right Ventricular Dysplasia, Neuroleptic Malignant Syndrome	–	99.98	20 of 20
*SCN4A*	Hyperkalemic Periodic Paralysis, Hypokalemic Periodic Paralysis, Myasthenic Syndrome , Myotonia, Paramyotonia Congenita Of Von Eulenburg, Acetazolamide- Responsive Myotonia	AD,AR	99.77	136 of 142
*SELENON*	Fiber-Type Disproportion Myopathy, Rigid Spine Muscular Dystrophy, Multiminicore Myopathy	AD,AR	89	–
*SEPTIN9*	Neuralgic Amyotrophy	AD	86.94	4 of 4
*SGCA*	Limb Girdle Muscular Dystrophy	AR	100	119 of 119
*SGCB*	Limb Girdle Muscular Dystrophy	AR	98.36	55 of 65
*SGCD*	Cardiomyopathy, Limb Girdle Muscular Dystrophy	AD,AR	99.89	31 of 32
*SGCE*	Myoclonic Dystonia	AD	99.46	94 of 98
*SGCG*	Limb Girdle Muscular Dystrophy	AR	100	53 of 55
*SIL1*	Marinesco- Sjogren Syndrome	AR	100	47 of 48
*SLC16A1*	Erythrocyte Lactate Transporter Defect, Hyperinsulinemic Hypoglycemia	AD,AR	99.68	12 of 14
*SLC22A5*	Carnitine Deficiency	AR	100	161 of 162
*SLC25A20*	Carnitine- Acylcarnitine Translocase Deficiency	AR	100	39 of 39
*SMCHD1*	Bosma Arhinia Microphthalmia Syndrome, Facioscapulohumeral Muscular Dystrophy, Hyposmia, Nasal And Ocular Hypoplasia, Hypogonadotropic Hypogonadism	AD,MU,D	99.64	131 of 137
*SMN1*	Spinal Muscular Atrophy	AR	5.2	17 of 91
*SMN2*	Spinal Muscular Atrophy	AR	7.6	0 of 3
*SPEG*	Myopathy	AR	99.26	17 of 17
*SPTBN4*	Myopathy, Neuropathy, Deafness	AR	99.26	10 of 10
*SQSTM1*	Frontotemporal Dementia, Myopathy, Neurodegeneration, Ataxia, Dystonia, Gaze Palsy, Paget Disease Of Bone, Amyotrophic Lateral Sclerosis	AD,AR	99.25	105 of 107
*STAC3*	Native American Myopathy	AR	99.98	5 of 5
*SUN1*	Emery-Dreifuss Muscular Dystrophy, Hyperalphalipoproteinemia, Laminopathy	–	99.78	7 of 7
*SUN2*	Emery Dreifuss Muscular Dystrophy, Emerinopathy, Laminopathy	–	100	4 of 4
*SYNE1*	Arthrogryposis, Emery-Dreifuss Muscular Dystrophy, Spinocerebellar Ataxia	AD,AR	99.99	193 of 193
*SYNE2*	Emery-Dreifuss Muscular Dystrophy	AD	99.94	12 of 12
*TCAP*	Cardiomyopathy, Limb Girdle Muscular Dystrophy	AD,AR	100	33 of 33
*TIA1*	Welander Distal Myopathy	AD,AR	100	13 of 13
*TK2*	Mitochondrial Dna Depletion Syndrome, Ophthalmoplegia	AR	97.08	64 of 65
*TMEM126B*	Mitochondrial Complex I Deficiency	AR	98.88	4 of 4
*TMEM43*	Arrhythmogenic Right Ventricular Dysplasia, Emery-Dreifuss Muscular Dystrophy	AD	99.98	26 of 26
*TNNT1*	Nemaline Myopathy	AR	89.94	7 of 8
*TNPO3*	Limb Girdle Muscular Dystrophy, Biliary Cholangitis	AD	99.98	7 of 7
*TOR1AIP1*	Limb Girdle Muscular Dystrophy	AR	97.5	5 of 6
*TPM2*	Arthrogryposis, Fiber-Type Disproportion Myopathy, Nemaline Myopathy, Cap Myopathy, Digitotalar Dysmorphism, Sheldon-Hall Syndrome	AD,AR	100	41 of 41
*TPM3*	Nemaline Myopathy, Cap Myopathy, Fiber-Type Disproportion Myopathy	AD,AR	100	27 of 27
*TRAPPC11*	Intellectual Disability, Hyperkinetic Movement, Truncal Ataxia, Limb-Girdle Muscular Dystrophy, Triple A Syndrome	AR	99.97	18 of 18
*TRIM32*	Bardet-Biedl Syndrome, Limb Girdle Muscular Dystrophy	AR	100	17 of 17
*TRIP4*	Muscular Dystrophy, Spinal Muscular Atrophy, Respiratory Failure, Skin Abnormalities, Joint Hyperlaxity	AR	99.92	3 of 3
*TTN*	Cardiomyopathy, Limb Girdle Muscular Dystrophy, Tibial Muscular Dystrophy, Centronuclear And Multiminicore Myopathy	AD,AR	97.93	1153 of 1219
*UNC45B*	Cataract	AD	99.72	6 of 6
*VCP*	Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Charcot-Marie- Tooth Disease, Inclusion Body Myopathy, Paget Disease, Non-Fluent Aphasia, Spastic Paraplegia	AD	100	68 of 69
*VMA21*	Myopathy	X,XR,G	99.94	–
*VPS13A*	Choreoacanthocytosis	AR	99.37	120 of 122

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Congenital Muscular Dystrophies and Myopathies Precision Panel

Congenital Muscular Dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes responsible for normal muscle function, resulting in progressive muscle weakness without a central or peripheral nerve abnormality.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

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