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Front Index Search Links Pathology Molecules Syndromes |
Muscle NMJ Nerve Spinal Ataxia Antibody & Biopsy Patient Information |
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Genetics RyR protein Clinical Laboratory Pathology |
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Clinical features: General Laboratory features: General Pathology Hereditary Types α-Actin: 1q42 α-tropomyosin 3 (TPM3): 1q21 β-tropomyosin (TPM2): 9p13 Cofilin-2 (CFL2): 14q12 Nebulin: 2q21 Ryanodine receptor (Rods + Cores): 19q13 Troponin T1: 19q13 Myopathy + Slow movements & cores: 15q21 Rod myopathy, mild Sporadic disorders with rods Infant onset myopathy Adult onset myopathy HIV rod myopathy Target fibers (Acute Denervation) |
Rod myopathy: Distal weakness & contractures
![]() From A Connolly |
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Types Dominant Dynamin 2: 19p13 MYF6: 12q21 Recessive BIN1: 2q14 X-linked: Myotubularin; Xq27 Carriers Pathology |
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CONGENITAL MUSCULAR DYSTROPHIES Adducted thumbs & Ophthalmoplegia Cerebellar atrophy CMD: 4p16 CNS atrophy & absent large myelinated PN axons Desmin inclusions Fukuyama: Fukutin; 9q31 Integrin α-7: 12q13 Junctional Epidermolysis Bullosa: 8q24 Marinesco-Sjögren: SIL1; 5q31 Merosin (laminin α2-chain) Deficient (MDC1A): 6q22 Normal: "Pure" form Mitochondrial structural changes Muscle-Eye-Brain Disorders Santavuori (Finnish): POMGnT1; 1p32 Walker-Warburg: POMT1; 9q34 Muscle hypertrophy Mental retardation Respiratory failure (MDC1B): 1q42 Normal CNS (MDC1C): FKRP; 19q13 Severe retardation (MDC1D): LARGE; 22q12 Epidermolysis bullosa: Plectin; 8q24 Rigid spine with CMD: SEPN1; 1p35 Ullrich COL6A1; 21q22 COL6A2; 21q22 COL6A3; 2q37 General features |
![]() from A Kornberg MD |
![]() Pectoral folds (Arrow) with severe shoulder weakness |
![]() ![]() CMD: Normal merosin |
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Fukuyama Muscle-eye-brain disease (Santavuori) Walker-Warburg |
![]() From D Cummings MD |
| Congenital MD + Rigid Spine |