| Current Name | Old Name | Gene | Chromosomal Locus | Protein | OMIM Disease ID | Age of Onset | Key Clinical Features |
|---|---|---|---|---|---|---|---|
| LGMDD1 | LGMD1D | DNAJB6 | 7q36.3 | DnaJ heat shock protein family member B6 | OMIM not confirmed in retrieved evidence | 2nd decade to upper middle age | Slowly progressive proximal weakness, often with distal involvement; fat infiltration on MRI; myofibrillar pathology/protein aggregation (pqac-00000000, pqac-00000002, pqac-00000025, pqac-00000026) |
| LGMDD2 | LGMD1F | TNPO3 | 7q32.1 | Transportin-3 | OMIM not confirmed in retrieved evidence | Infancy to late adulthood; highly variable | Pelvic and shoulder girdle weakness, generalized atrophy, delayed walking in some cases, scapular winging/rigid spine/scoliosis, possible wheelchair dependence and respiratory insufficiency (pqac-00000000, pqac-00000002, pqac-00000024, pqac-00000026) |
| LGMDD3 | LGMD1G | HNRNPDL | 4p21 | Heterogeneous nuclear ribonucleoprotein D-like | OMIM not confirmed in retrieved evidence | Adult onset | Slowly progressive proximal limb weakness; rimmed vacuoles reported in muscle biopsy (pqac-00000000, pqac-00000001, pqac-00000026) |
| LGMDD4 | LGMD1I | CAPN3 | Not confirmed in retrieved evidence | Calpain-3 | OMIM not confirmed in retrieved evidence | 8–15 years | Progressive scapular and pelvic girdle degeneration; severity may vary by mutation type (pqac-00000000, pqac-00000001, pqac-00000026) |
| LGMDD5 | Bethlem myopathy (dominant collagen VI-related LGMD) | COL6A1, COL6A2, COL6A3 | Not confirmed in retrieved evidence | Collagen VI alpha chains 1/2/3 | OMIM not confirmed in retrieved evidence | 10–30 years | Slowly progressive weakness with proximal atrophy, ankle contractures; characteristic muscle MRI signs including “target” and “sandwich” signs (pqac-00000000, pqac-00000003, pqac-00000025, pqac-00000026) |
| Excluded from revised LGMD classification | LGMD1A | MYOT | 5q31.2 | Myotilin | MIM 159000 | Late onset | Distal myopathy affecting ankles/feet/calves, may later involve proximal muscles; occasional respiratory insufficiency or cardiac failure (pqac-00000001, pqac-00000002, pqac-00000025) |
| Excluded from revised LGMD classification | LGMD1B | LMNA | 1q22 | Lamin A/C | MIM 159001 | Variable; often childhood to adulthood | Proximal weakness with prominent cardiac arrhythmia/conduction disease risk; some reclassified toward Emery-Dreifuss spectrum (pqac-00000001, pqac-00000002, pqac-00000025) |
| Excluded from revised LGMD classification | LGMD1C | CAV3 | 3p25.3 | Caveolin-3 | MIM 607801 | Variable; childhood to adulthood | HyperCKemia, calf hypertrophy, ankle contracture, exercise intolerance, cramps; overlapping caveolinopathy phenotypes including rippling muscle disease (pqac-00000001, pqac-00000002, pqac-00000025) |
| Excluded from revised LGMD classification | LGMD1E | DES | 2q35 | Desmin | MIM 615325 | Not confirmed in retrieved evidence | Desmin aggregation/myofibrillar pathology, distal weakness, structural muscle abnormalities (pqac-00000001, pqac-00000002, pqac-00000005) |
| Excluded from revised LGMD classification | LGMD1H | Unknown | Unknown | Unknown | Not confirmed in retrieved evidence | Not confirmed in retrieved evidence | Historical subtype with unresolved/unknown genetic basis; excluded from refined classification (pqac-00000003, pqac-00000004) |


*Table: This table summarizes recognized autosomal dominant limb-girdle muscular dystrophy subtypes and historically named/excluded forms, with genes, loci, OMIM identifiers when available from retrieved evidence, onset, and hallmark clinical features. It is useful for mapping old and new nomenclature during knowledge-base curation.*