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General Resources
Collagen 6
Collagen 12
Dystroglycanopathies
LAMA
2 (Merosin)
LMNA (Laminopathie
s)
SEPN1
Titin Related Disorders
RYR1
Centronuclear/Myotubular Myopathy
Nemaline Myopathy
Congenital Myasthenic Syndrome
General Resource
Col6
LAMA2
aDG
LMNA
SELENON
RYR1
TTN
Col12
General Resources
Collagen 6 - Ullrich CMD through Bethlem Myopathy
Collagen 12
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
SELENON (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
CN&MM
NM
CMS
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