| CNM subtype / entity | Major causal gene(s) | Typical inheritance | Hallmark clinical features | Hallmark biopsy / pathology features | Brief notes | Key citations |
|---|---|---|---|---|---|---|
| X-linked myotubular myopathy (XLMTM; severe CNM form) | **MTM1** | **X-linked recessive** | Usually neonatal/congenital onset; severe hypotonia and generalized weakness; respiratory insufficiency often requiring mechanical ventilation; feeding difficulties; early mortality common; multisystem involvement including hepatobiliary disease increasingly recognized | Centralized nuclei, organelle mislocalization, hypotrophic fibers with **type 1 fiber predominance**; classic “myotubular” pattern on muscle biopsy | Caused by loss of myotubularin, a phosphoinositide phosphatase; most severe canonical CNM subtype in current literature | (pqac-00000000, pqac-00000001, pqac-00000002, pqac-00000007) |
| Autosomal dominant centronuclear myopathy | **DNM2** | **Autosomal dominant** | Often childhood-to-adult onset; slowly progressive limb weakness; may include facial weakness, ptosis, ophthalmoplegia in some cases, but milder adult phenotypes also reported; can show unusual electrophysiologic myotonia without clinical myotonia | Central nuclei; **type 1 fiber predominance**; “localized nuclear internalization” and **sarcoplasmic radiating strands** are classically associated pathologic clues | DNM2-related disease is linked to increased/abnormal dynamin-2 activity or abundance; experimental DNM2 lowering improves mouse phenotypes | (pqac-00000003, pqac-00000007, pqac-00000013, pqac-00000014, pqac-00000016) |
| Autosomal recessive centronuclear myopathy | **BIN1** | **Autosomal recessive** (rare dominant truncating SH3-domain alleles also reported in mechanistic studies) | Congenital myopathy with weakness/hypotonia; often linked mechanistically to T-tubule/triad defects | Aggregates of central nuclei and rounded **type 1 atrophic fibers**; pathology reflects membrane-remodeling/triad defects | BIN1 encodes amphiphysin 2; SH3-domain disruption impairs **BIN1–DNM2** interactions important for T-tubule biogenesis; recent interactomics suggests wider partner disruption | (pqac-00000003, pqac-00000017, pqac-00000018, pqac-00000019, pqac-00000022) |
| CNM / congenital myopathy with centronuclear histology | **RYR1** | Usually **autosomal dominant or recessive** depending on allele | Broad congenital myopathy spectrum; weakness, facial weakness, ptosis/ophthalmoplegia can occur; in one recent Indian cohort, RYR1 was the most common pathogenic gene among genetically confirmed congenital myopathies and centronuclear myopathy was the most common histologic pattern | May present with centronuclear histology rather than a gene-specific classic CNM pattern | Important differential/overlap gene because excitation–contraction coupling and triad defects can converge on centronuclear pathology | (pqac-00000005, pqac-00000007) |
| CNM / congenital myopathy with centronuclear histology | **TTN** | Usually **autosomal recessive or dominant** depending on variant context | Listed among common CNM-associated genes in recent clinical review/case literature; phenotype can overlap congenital myopathy with axial/limb weakness | No distinctive TTN-specific CNM biopsy signature established in the gathered evidence beyond centronuclear pathology | Included as a recognized genetic cause/overlap contributor in CNM disease definitions | (pqac-00000007) |
| Rare CNM subtype | **CCDC78** | **Autosomal dominant** in reported families | Rare congenital myopathy/CNM overlap; weakness and congenital onset reported historically | Centronuclear pathology; no additional hallmark biopsy detail provided in gathered evidence | Mentioned as a minor/rarer CNM cause in current case-based review literature | (pqac-00000007) |
| Rare CNM subtype / overlap congenital myopathy | **SPEG** | Usually **autosomal recessive** | Congenital weakness/hypotonia; may overlap with CNM and cardiomyopathy phenotypes in broader literature | Centronuclear pathology possible; no detailed biopsy hallmark provided in the gathered evidence set | Mentioned as a minor/rarer CNM cause in recent review/case literature | (pqac-00000007) |


*Table: This table summarizes the principal centronuclear myopathy subtypes and genes identified in the gathered evidence, with inheritance, key clinical manifestations, and characteristic pathology. It is useful for quickly comparing classic XLMTM/MTM1, DNM2-related, BIN1-related, and rarer gene-associated CNM forms.*