Congenital muscular dystrophy (CMD): classification
Evidence-based neurology checklist on congenital muscular dystrophy (cmd): classification: Collagenopathies (collagen VI related CMD) Ullrich congenital muscular dystrophy (UCMD) Intermediate phenotype Bethlem myopathy Integrin α7 deficiency Dystroglycanopathies (α dystroglycan-related CMD)…
Collagenopathies (collagen VI related CMD)
- Ullrich congenital muscular dystrophy (UCMD)
- Intermediate phenotype
- Bethlem myopathy
- Integrin α7 deficiency
Dystroglycanopathies (α dystroglycan-related CMD)
Merosinopathies (merosin deficient CMD)
RYR1 related CMD
SEPN (selenoprotein) related CMD
Other types
References
- Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F. Congenital muscular dystrophy: molecular and cellular aspects. Cell Mol Life Sci 2005; 62:809-823.
- Bertini E, D'Amico A, Gualandi F, Petrini S. Congenital muscular dystrophies: a brief review. Semin Pediatr Neurol 2011; 18:277-288.
- Bönnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014; 24:289-311.
- Kang PB, Morrison L, Iannaccone ST, et al; Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology 2015; 84:1369-1378.
- Santilli AR, Ni O, Milone M, Selcen D, et al. Immune-mediated megaconial myopathy: a novel subtype of autoimmune myopathy. Neurology 2024; 103:e210001.
