General Resources

 

Collagen VI

Full Spectrum of Collagen VI/Disorders from Ullrich CMD through Bethlem Myopathy

Collagen XII



The Dystroglycanopathies

aDG-MD, Dystroglycanopathy, Walker-Warburg, Muscle-Eye-Brain, Fukuyama, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O

LAMA2

Merosin Deficient/Merosin Negative 

The Laminopathties

LMNA-CMD (L-CMD, Lamin A/C), LGMD1B & EDMD

 

SEPN1

Rigid Spine Muscular Dystrophy/RSMD

Titin Related Disorders

RYR1

Central Core, Multiminicore and Centronuclear Myopathy, Malignant Hyperthermia related to RYR1 mutations

Centronuclear and Myotubular Myopathy

Nemaline Myopathy

Congenital Myasthenic Syndrome

If you see a group or page missing from this list, please email us at info@curecmd.org