Table 1.
Classification of Congenital Myopathies
| Disorder | Inheritance | Protein (gene)/Locus |
|---|---|---|
| Congenital myopathies associated with protein accumulations | ||
| Nemaline myopathy | AD, AR | α-tropomyosinSLOW (TPM3) |
| AR | nebulin (NEB) | |
| AD, AR | skeletal α-actin (ACTA1) | |
| AD | β-tropomyosin (TPM2) | |
| AR | troponin T (TNNT1) | |
| AR | cofilin (CLF2) | |
| Cap disease (variant of nemaline myopathy) | AD | β-tropomyosin (TPM2) |
| AD | α-tropomyosinSLOW (TPM3) | |
| AD | skeletal α-actin (ACTA1) | |
| Zebra body myopathy (variant of nemaline myopathy) | AD | skeletal α-actin (ACTA1) |
| Myosin storage myopathy (hyaline body) | AD | slow/β-cardiac myosin heavy chain (MYH7) |
| Congenital myopathies associated with cores | ||
| Central core disease | AD, AR | ryanodine receptor (RYR1) |
| Multi-minicore disease | AD, AR | ryanodine receptor (RYR1) |
| Including congenital myopathy with cores (both central and minicores) | AR | selenoprotein N (SEPN1) |
| AD | skeletal α-actin (ACTA1) | |
| Congenital myopathies associated with cores and rods | ||
| Core-rod myopathy | AD, AR | ryanodine receptor (RYR1) |
| AD | kelch repeat and BTB (POZ) domain containing 13 (KBTBD13) | |
| AR | nebulin (NEB) | |
| Congenital myopathies associated with centralized nuclei | ||
| Myotubular myopathy | X-linked | myotubularin (MTM1) |
| Centronuclear myopathy | AD | dynamin 2 (DNM2) |
| AR | amphiphysin 2 (BIN1) | |
| AR | ryanodine receptor (RYR1) | |
| Congenital myopathies associated only with small type 1 fibers | ||
| Congenital fiber type disproportion | AD | skeletal α-actin (ACTA1) |
| AD | α-tropomyosinSLOW (TPM3) | |
| AR | selenoprotein N (SEPN1) | |
| AD | β-tropomyosin (TPM2) | |
| X-linked | Xp22.13 to Xq22.1 |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive. Adapted from North KN. What’s new in congenital myopathies? Neuromusc Disord. 2008;18(6):433–442.