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General Resources

 

Collagen VI

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

Collagen XII



Dystroglycanopathies

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

LAMA2

Merosin Deficient/Merosin Negative 

Laminopathies

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

Col6
LAMA2
ADG
LMNA
SEPN1
RYR1
TTN
Col12
General Resource
CN&MM
NM
CMS
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