Table 1.
Autosomal dominant limb girdle muscular dystrophy.
| Gene | Clinical phenotype | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | Locus | Name | Exons | Protein (protein function) |
Typical onset | Progression | Cardiomiopathy | sCK | Allelic disorders (OMIM, #) |
| LGMD1A | 5q31.2 | TTID | 10 | myotilin (structural; Z disc) |
Adulthood | Slow | Not observed | 3-4X | Myopathy, myofibrillar, 3 (609200) |
| Myopathy, spheroid body (182920) | |||||||||
| LGMD1B | 1q22 | LMNA | 12 | lamin A/C (structural; fibrous nuclear lamina ) |
Variable (4-38y) |
Slow | Frequent | 1-6X | Cardiomyopathy, dilated, 1A(115200) |
| Charcot-Marie-Tooth disease, type 2B1(605588) | |||||||||
| Emery-Dreifuss muscular dystrophy 2, AD(181350) | |||||||||
| Emery-Dreifuss muscular dystrophy 3, AR(181350) | |||||||||
| Heart-hand syndrome, Slovenian type(610140) | |||||||||
| Hutchinson-Gilford progeria(176670) | |||||||||
| Lipodystrophy, familial partial, 2(151660) | |||||||||
| Malouf syndrome(212112) | |||||||||
| Mandibuloacral dysplasia(248370) | |||||||||
| Muscular dystrophy, congenital(613205) | |||||||||
| Restrictive dermopathy, lethal(275210) | |||||||||
| LGMD1C | 3p25.3 | CAV3 | 2 | caveolin 3 (scaffolding protein within caveolar membranes) |
Childhood | Slow/ moderate | Frequent | 10X | Cardiomyopathy, familial hypertrophic(192600) |
| Creatine phosphokinase, elevated serum(123320) | |||||||||
| Long QT syndrome 9(611818) | |||||||||
| Myopathy, distal, Tateyama type(614321) | |||||||||
| Rippling muscle disease(606072) | |||||||||
| LGMD1D | 7q36 | DNAJB6 | 10 | DnaJ/Hsp40 homolog, subfamily B, member 6 (chaperone) |
Variable (25-50y) |
Slow | Not observed | 1-10X | - |
| LGMD1E | 2q35 | DES | 9 | desmin (structural; intermediate filament) |
Adulthood | Slow | Frequent | 5-10X | Muscular dystrophy, limbgirdle, type 2R(615325) |
| Cardiomyopathy, dilated, 1I(604765) | |||||||||
| Myopathy, myofibrillar, 1(601419) | |||||||||
| Scapuloperoneal syndrome, neurogenic, Kaeser type(181400) | |||||||||
| LGMD1F | 7q32 | TNPO3 | 23 | transportin 3 (nuclear importin) |
Variable (1-58y) |
Slow/ moderate | Not observed | 1-3X | - |
| LGMD1G | 4q21 | HNRPDL | 9 | Heterogeneous nuclear ribonucleoprotein D-like protein (ribonucleoprotein, RNA-processing pathways) |
Variable (13-53y) |
Slow | Not observed | 1-9X | - |
| LGMD1H | 3p23-p25 | - | - | - | Variable (10-50y) |
Slow | Not observed | 1-10X | - |